Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
KCND3	3752	broad.mit.edu	37	1	112329617	112329617	+	Silent	SNP	A	A	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:112329617A>G	ENST00000369697.1	-	2	1287	c.1218T>C	c.(1216-1218)ttT>ttC	p.F406F	KCND3_ENST00000315987.2_Silent_p.F406F|KCND3_ENST00000302127.4_Silent_p.F406F			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	406						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		AAATCCGGCTAAAGTTGGAAA	0.547000													24	60					0	0	1	0	0
SERPINB9	5272	broad.mit.edu	37	6	2893683	2893683	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:2893683C>T	ENST00000380698.4	-	5	618	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	177					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GTGTATGTTTCGTCAAACGGT	0.398000													24	149					0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135776204	135776204	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:135776204G>A	ENST00000298552.3	-	20	2744	c.2523C>T	c.(2521-2523)gtC>gtT	p.V841V	TSC1_ENST00000545250.1_Silent_p.V790V|TSC1_ENST00000440111.2_Silent_p.V841V	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	841					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TCTGCTGCTGGACCGACTCAC	0.448000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				13	86					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61833195	61833195	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:61833195C>T	ENST00000280772.1	-	37	7635	c.7444G>A	c.(7444-7446)Gaa>Aaa	p.E2482K	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2482					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTAACCGATTCCTCAGTATCA	0.458000													27	65					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138645190	138645190	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:138645190G>A	ENST00000251691.4	+	31	5066	c.4900G>A	c.(4900-4902)Gag>Aag	p.E1634K		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1634					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CAGCGGCACGGAGAGCTTCAG	0.652000													21	49					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23825111	23825111	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:23825111C>T	ENST00000354639.3	+	18	2558	c.2094C>T	c.(2092-2094)ctC>ctT	p.L698L	STK31_ENST00000355870.3_Silent_p.L721L|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Silent_p.L721L|STK31_ENST00000428484.1_Silent_p.L698L	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	721							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTGGTGGTCTCCTTACAATGA	0.393000													34	115					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17599902	17599902	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:17599902G>A	ENST00000375460.3	+	10	1155	c.1115G>A	c.(1114-1116)aGg>aAg	p.R372K		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	372					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GACTCCCCAAGGAATGGGGAA	0.612000													6	25					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79372965	79372965	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:79372965G>A	ENST00000264895.6	+	46	6943	c.6503G>A	c.(6502-6504)gGg>gAg	p.G2168E		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2167					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GAACCTGGAGGGAGCTTTGCT	0.368000													5	33					0	0	1	0	0
SNAPC2	6618	broad.mit.edu	37	19	7986621	7986621	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:7986621G>A	ENST00000221573.6	+	3	386	c.335G>A	c.(334-336)gGg>gAg	p.G112E	SNAPC2_ENST00000597584.1_5'UTR|SNAPC2_ENST00000595035.1_3'UTR	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	112					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						AAGATAACAGGGCCACTGGAA	0.612000													8	9					0	0	1	0	0
ACVR2A	92	broad.mit.edu	37	2	148683722	148683722	+	Nonsense_Mutation	SNP	A	A	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:148683722A>T	ENST00000241416.7	+	10	1975	c.1339A>T	c.(1339-1341)Aaa>Taa	p.K447*	ACVR2A_ENST00000404590.1_Nonsense_Mutation_p.K447*|ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000535787.1_Nonsense_Mutation_p.K339*	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	447	Protein kinase.				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TTATTGGCAGAAACATGCTGT	0.363000													16	66					0	0	1	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74307761	74307761	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:74307761G>A	ENST00000446526.3	-	10	1465	c.1020C>T	c.(1018-1020)gtC>gtT	p.V340V	PRPSAP1_ENST00000324684.4_Silent_p.V237V|PRPSAP1_ENST00000588364.1_5'UTR	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	311					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						CCTCATGAGGGACAGTATTCG	0.438000													14	74					0	0	1	0	0
CCDC80	151887	broad.mit.edu	37	3	112324446	112324446	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:112324446C>T	ENST00000206423.3	-	8	3624	c.2671G>A	c.(2671-2673)Gat>Aat	p.D891N	CCDC80_ENST00000439685.2_Missense_Mutation_p.D891N	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	891										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCAATTAAATCGTACACAATC	0.483000													13	51					0	0	1	0	0
ZNF197	10168	broad.mit.edu	37	3	44684804	44684804	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:44684804C>T	ENST00000396058.1	+	5	2349	c.2182C>T	c.(2182-2184)Cat>Tat	p.H728Y	RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.H728Y|ZNF197_ENST00000383744.4_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	728					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		TCAGAAACTCCATACACAAGA	0.433000													30	124					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424312	56424312	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:56424312C>T	ENST00000588751.1	-	5	895	c.871G>A	c.(871-873)Gat>Aat	p.D291N	NLRP13_ENST00000342929.3_Missense_Mutation_p.D291N			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	291	NACHT.						ATP binding	p.D291N(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GCATCAAAATCGGGCCAATCC	0.398000													21	68					0	0	1	0	0
ACSL1	2180	broad.mit.edu	37	4	185687872	185687872	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:185687872G>A	ENST00000515030.1	-	13	1492	c.1167C>T	c.(1165-1167)ctC>ctT	p.L389L	ACSL1_ENST00000507295.1_Silent_p.L355L|ACSL1_ENST00000454703.2_Silent_p.L218L|ACSL1_ENST00000513317.1_Silent_p.L389L|ACSL1_ENST00000504342.1_Silent_p.L389L|ACSL1_ENST00000437665.3_Silent_p.L218L|ACSL1_ENST00000281455.2_Silent_p.L389L			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	389					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CAAAGTCCAAGAGCCATCGCT	0.488000													31	85					0	0	1	0	0
SLC7A10	56301	broad.mit.edu	37	19	33703782	33703782	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:33703782G>A	ENST00000253188.3	-	3	629	c.483C>T	c.(481-483)tcC>tcT	p.S161S		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	161					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					ACAGCACCCGGGAGGCTGTGG	0.627000													21	72					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151876967	151876967	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:151876967G>A	ENST00000355193.2	-	37	7612	c.7394C>T	c.(7393-7395)cCc>cTc	p.P2465L	KMT2C_ENST00000262189.6_Missense_Mutation_p.P2465L					lysine (K)-specific methyltransferase 2C																		AGGAGGATAGGGTCCACGCTG	0.458000													28	207					0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94935965	94935965	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:94935965G>A	ENST00000337425.5	-	2	341	c.267C>T	c.(265-267)tcC>tcT	p.S89S	SERPINA9_ENST00000546329.1_Silent_p.S53S|SERPINA9_ENST00000298845.7_Silent_p.S89S|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000380365.3_Silent_p.S71S|SERPINA9_ENST00000448305.2_5'UTR	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	71					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CACTCACAGGGGAGAAGAAGA	0.582000													21	68					0	0	1	0	0
FAM186B	84070	broad.mit.edu	37	12	49981429	49981429	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:49981429C>T	ENST00000257894.2	-	7	2802	c.2641G>A	c.(2641-2643)Gga>Aga	p.G881R	FAM186B_ENST00000544141.1_Intron|FAM186B_ENST00000551047.1_Intron	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	881						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCTGGGTGTCCCCTCAGCTGG	0.582000													16	41					0	0	1	0	0
GPR37	2861	broad.mit.edu	37	7	124386813	124386813	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:124386813G>A	ENST00000303921.2	-	2	2258	c.1608C>T	c.(1606-1608)ttC>ttT	p.F536F		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	536						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGAACAAAAGGAACTGGCTGA	0.468000													22	134					0	0	1	0	0
KIF2A	3796	broad.mit.edu	37	5	61659093	61659093	+	Missense_Mutation	SNP	A	A	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:61659093A>G	ENST00000381103.2	+	14	1633	c.1148A>G	c.(1147-1149)gAg>gGg	p.E383G	KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000506857.1_Missense_Mutation_p.E357G|KIF2A_ENST00000401507.3_Missense_Mutation_p.E403G|KIF2A_ENST00000407818.3_Missense_Mutation_p.E403G	NM_001243952.1	NP_001230881.1	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	403	Kinesin-motor.				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		CAGGAACGGGAGGTCAAATGT	0.368000													5	29					0	0	1	0	0
OTOP1	133060	broad.mit.edu	37	4	4190644	4190644	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:4190644C>T	ENST00000296358.4	-	6	1749	c.1725G>A	c.(1723-1725)gaG>gaA	p.E575E		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	575					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAAAGACAATCTCCTCCAATC	0.493000													5	127					0	0	1	0	0
IL37	27178	broad.mit.edu	37	2	113675304	113675304	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:113675304C>T	ENST00000263326.3	+	4	400	c.358C>T	c.(358-360)Ctc>Ttc	p.L120F	IL37_ENST00000352179.3_Missense_Mutation_p.L99F|IL37_ENST00000311328.2_Missense_Mutation_p.L94F|IL37_ENST00000353225.3_Missense_Mutation_p.L80F|IL37_ENST00000349806.3_Missense_Mutation_p.L59F	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	120					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						GGAGTTTTGTCTCTACTGTGA	0.478000													35	116					0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94224666	94224666	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:94224666C>T	ENST00000515393.1	-	12	1850	c.1851G>A	c.(1849-1851)agG>agA	p.R617R	MCTP1_ENST00000505078.1_Silent_p.R133R|MCTP1_ENST00000429576.2_Silent_p.R350R|MCTP1_ENST00000312216.8_Silent_p.R396R|MCTP1_ENST00000505208.1_Silent_p.R396R	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	617	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.R617S(2)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TGTGAAATATCCTCAATGGGC	0.423000													16	53					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200967693	200967693	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:200967693G>A	ENST00000332129.2	-	14	2212	c.1896C>T	c.(1894-1896)ttC>ttT	p.F632F	KIF21B_ENST00000422435.2_Silent_p.F632F|KIF21B_ENST00000360529.5_Silent_p.F632F|KIF21B_ENST00000461742.2_Silent_p.F632F	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	632					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGTCCGCCTGGAAGTTCACCT	0.612000													15	72					0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119772	3119772	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:3119772C>T	ENST00000304094.1	+	1	858	c.858C>T	c.(856-858)ttC>ttT	p.F286F		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TAAATCCTTTCATCTACAGTC	0.473000													21	102					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123838975	123838975	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:123838975G>A	ENST00000422452.2	-	5	966	c.903C>T	c.(901-903)tcC>tcT	p.S301S	TENM1_ENST00000371130.3_Silent_p.S301S	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		AGGCAGGTCGGGAAAAGGTGC	0.527000													48	72					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38955747	38955747	+	Silent	SNP	A	A	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:38955747A>G	ENST00000357387.3	-	26	2589	c.2559T>C	c.(2557-2559)acT>acC	p.T853T	RICTOR_ENST00000296782.5_Silent_p.T853T|RICTOR_ENST00000503698.1_5'UTR	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	853					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					GCTTCCGGTAAGTAGTAAGTG	0.343000													13	73					0	0	1	0	0
SLC52A3	113278	broad.mit.edu	37	20	744236	744236	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:744236G>A	ENST00000381944.3	-	3	1220	c.979C>T	c.(979-981)Ctg>Ttg	p.L327L	SLC52A3_ENST00000217254.7_Silent_p.L327L|SLC52A3_ENST00000473664.1_Intron			Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	327					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										CCATAGGACAGGCAGGAGTAG	0.622000													58	102					0	0	1	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332530	22332530	+	RNA	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:22332530G>A	ENST00000558896.1	+	0	337																											ATTGTCCTGGGAAACCTCTTG	0.393000													25	97					0	0	1	0	0
ABCD2	225	broad.mit.edu	37	12	40001459	40001459	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:40001459C>T	ENST00000308666.3	-	3	1313	c.1178G>A	c.(1177-1179)cGa>cAa	p.R393Q		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	393	ABC transmembrane type-1.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CAGTAAATTTCGAGCAGTGGT	0.323000													22	85					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118598420	118598420	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:118598420C>T	ENST00000336338.5	-	19	2723	c.2658G>A	c.(2656-2658)ttG>ttA	p.L886L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	886						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CAGAAGATTTCAATTCCAGCT	0.308000													5	37					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156237363	156237363	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:156237363C>T	ENST00000361813.5	-	10	1159	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	339					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TCCTCCTCATCCTCACTGGCC	0.537000													42	66					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36211905	36211905	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:36211905C>T	ENST00000222270.7	+	3	1656	c.1656C>T	c.(1654-1656)ccC>ccT	p.P552P	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000341701.1_Intron|WBP7_ENST00000420124.1_Silent_p.P552P	NM_014727.1	NP_055542.1																					AAGACCCCCCCAAACCCCCAA	0.592000													6	10					0	0	1	0	0
SDC3	9672	broad.mit.edu	37	1	31349635	31349635	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:31349635G>A	ENST00000336798.7	-	1	1952	c.460C>T	c.(460-462)Ctg>Ttg	p.L154L	SDC3_ENST00000471567.1_5'UTR|SDC3_ENST00000339394.6_Silent_p.L212L			O75056	SDC3_HUMAN	syndecan 3	212	Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GGGAGAGGCAGAAGCCTCCGT	0.682000													14	42					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105836092	105836092	+	Silent	SNP	T	T	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:105836092T>G	ENST00000353479.5	-	5	588	c.298A>C	c.(298-300)Agg>Cgg	p.R100R	COL17A1_ENST00000369733.3_Silent_p.R100R|COL17A1_ENST00000393211.3_Silent_p.R100R	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	100	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGAGTTTTCCTTTCAAAGGTT	0.517000													24	142					0	0	1	0	0
REN	5972	broad.mit.edu	37	1	204125846	204125846	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:204125846G>A	ENST00000367195.2	-	6	811	c.768C>T	c.(766-768)atC>atT	p.I256I	REN_ENST00000272190.8_Silent_p.I259I			P00797	RENI_HUMAN	renin	259					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TGATGAGGTTGATATAGTGGA	0.522000													63	75					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53028865	53028865	+	Silent	SNP	T	T	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:53028865T>C	ENST00000276480.7	-	25	3656	c.2973A>G	c.(2971-2973)tcA>tcG	p.S991S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	991						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CAGCAAGGCTTGAAATGAGAG	0.458000													30	75					0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160637469	160637469	+	Silent	SNP	A	A	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:160637469A>C	ENST00000504764.1	-	36	5169	c.5142T>G	c.(5140-5142)gcT>gcG	p.A1714A	CD302_ENST00000429078.2_Silent_p.A73A|LY75_ENST00000554112.1_Silent_p.A1714A|CD302_ENST00000259053.4_Silent_p.A73A|LY75_ENST00000553424.1_Silent_p.A1658A|LY75-CD302_ENST00000505052.1_Silent_p.A1658A|CD302_ENST00000480212.1_5'UTR	NM_001198759.1	NP_001185688.1	O60449	LY75_HUMAN		1582					endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										CCAGTATAAAAGCATTTTCTT	0.348000													8	36					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80388749	80388749	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:80388749G>A	ENST00000265080.4	+	10	1587	c.1520G>A	c.(1519-1521)aGa>aAa	p.R507K		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	507	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ATATGTACAAGAAGTTCAGGA	0.373000													33	110					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179494147	179494147	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:179494147G>A	ENST00000589042.1	-	240	44529	c.44305C>T	c.(44305-44307)Cct>Tct	p.P14769S	TTN_ENST00000342175.6_Missense_Mutation_p.P5896S|TTN_ENST00000342992.6_Missense_Mutation_p.P12201S|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P5829S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P13128S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P5704S|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13128	Fibronectin type-III 6.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTTTAAAGGCCTCAGAAGA	0.438000													12	52					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21552450	21552450	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:21552450C>T	ENST00000281523.2	-	4	860	c.342G>A	c.(340-342)atG>atA	p.M114I	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	114						nucleus	nucleic acid binding|zinc ion binding	p.M114I(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GCTTATTTTTCATGGCTTCCA	0.463000													14	79					0	0	1	0	0
LCTL	197021	broad.mit.edu	37	15	66845596	66845596	+	Splice_Site	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:66845596C>T	ENST00000341509.5	-	9	1054	c.922_splice	c.e9-1	p.G308_splice	LCTL_ENST00000537670.1_Splice_Site_p.G135_splice	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	308					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTCTTTCTTCCTTTTGAGAG	0.428000													29	95					0	0	1	0	0
SLC25A46	91137	broad.mit.edu	37	5	110097045	110097045	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:110097045C>T	ENST00000355943.3	+	8	946	c.820C>T	c.(820-822)Ctt>Ttt	p.L274F	SLC25A46_ENST00000504098.1_Missense_Mutation_p.L128F|SLC25A46_ENST00000509442.2_Missense_Mutation_p.L183F|SLC25A46_ENST00000513807.1_Missense_Mutation_p.L112F|SLC25A46_ENST00000509432.1_Missense_Mutation_p.L61F|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000447245.2_Intron	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	274					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		TCATGGAGTTCTTCATTACAT	0.433000													21	75					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228487166	228487166	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:228487166G>A	ENST00000570156.2	+	50	13491	c.13417G>A	c.(13417-13419)Ggg>Agg	p.G4473R	OBSCN_ENST00000284548.11_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000366707.4_Missense_Mutation_p.G1163R|OBSCN_ENST00000366709.4_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3516	Ig-like 46.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCAGATAACGGGGTGTACTC	0.542000													25	171					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48567570	48567570	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:48567570C>T	ENST00000537810.1	-	29	3912	c.3308G>A	c.(3307-3309)aGa>aAa	p.R1103K	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.R1103K|FRYL_ENST00000507711.1_Missense_Mutation_p.R1103K|FRYL_ENST00000358350.4_Missense_Mutation_p.R1103K			O94915	FRYL_HUMAN	FRY-like	1103					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GTATTGATGTCTATTAATTTG	0.353000													7	19					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20620541	20620541	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:20620541G>A	ENST00000504154.1	+	37	4751	c.4499G>A	c.(4498-4500)cGg>cAg	p.R1500Q	SLIT2_ENST00000503823.1_Missense_Mutation_p.R1492Q|SLIT2_ENST00000503837.1_Missense_Mutation_p.R1496Q|SLIT2_ENST00000273739.5_Missense_Mutation_p.R1513Q	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1500	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AGCAAGCGGCGGAAATACTCT	0.557000													11	36					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179579962	179579962	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:179579962G>A	ENST00000589042.1	-	90	26175	c.25951C>T	c.(25951-25953)Cct>Tct	p.P8651S	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P7407S|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P8334S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8334	Ig-like 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCTCTATAGGATGAGGCTTT	0.383000													23	69					0	0	1	0	0
OR5R1	219479	broad.mit.edu	37	11	56185432	56185432	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:56185432G>A	ENST00000312253.1	-	1	276	c.277C>T	c.(277-279)Cct>Tct	p.P93S		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GCATGGAAAGGAATGGTGTTG	0.463000													9	45					0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5021142	5021142	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:5021142C>T	ENST00000321543.1	+	1	930	c.930C>T	c.(928-930)gtC>gtT	p.V310V		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAAGTTTGTCCTAAGGAGGA	0.403000													20	48					0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196928040	196928040	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:196928040G>A	ENST00000367415.4	+	5	757	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	CFHR2_ENST00000367421.3_Missense_Mutation_p.E215K|CFHR2_ENST00000476712.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	215	Sushi 4.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						AGAAATTATGGAAAAATATAA	0.284000													7	25					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74492506	74492506	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:74492506C>T	ENST00000354431.4	-	8	2057	c.1866G>A	c.(1864-1866)ctG>ctA	p.L622L	LRRIQ3_ENST00000395089.1_Silent_p.L622L	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	622										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTCATTTTATCAGTCCATTGG	0.289000													7	17					0	0	1	0	0
KRT16P6	353194	broad.mit.edu	37	17	16722940	16722940	+	RNA	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:16722940C>T	ENST00000417510.1	-	0	873																											GGGCATTCATCTCCTGCACTG	0.562000													9	70					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56477726	56477726	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:56477726G>A	ENST00000291971.3	+	5	2432	c.2361G>A	c.(2359-2361)cgG>cgA	p.R787R	NLRP8_ENST00000590542.1_Silent_p.R787R	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	787						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GATCCCCCCGGTGCCGTCTGC	0.537000													9	50					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706525	96706525	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:96706525C>T	ENST00000389672.5	+	3	840	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C	EPHA6_ENST00000470610.2_Missense_Mutation_p.R268C|EPHA6_ENST00000542517.1_Missense_Mutation_p.R174C	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	173						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R174C(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CACTGAAATTCGTGAGGTGGG	0.443000													50	218					0	0	1	0	0
KBTBD2	25948	broad.mit.edu	37	7	32910037	32910037	+	Silent	SNP	A	A	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:32910037A>C	ENST00000304056.4	-	4	1491	c.792T>G	c.(790-792)acT>acG	p.T264T	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	264										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TTTCCTCTTTAGTCATCCCAA	0.408000													29	35					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110505951	110505951	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:110505951G>A	ENST00000378402.5	+	63	10402	c.10298G>A	c.(10297-10299)gGa>gAa	p.G3433E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3433					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGAAGAGCAGGATACCGCATT	0.343000										HNSCC(38;0.096)			10	34					0	0	1	0	0
ZNF287	57336	broad.mit.edu	37	17	16470906	16470906	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:16470906G>A	ENST00000395824.1	-	2	757	c.140C>T	c.(139-141)aCc>aTc	p.T47I	ZNF287_ENST00000395825.3_Missense_Mutation_p.T47I			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	40	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CTGTCGACAGGTCTCAGTGTC	0.473000													18	81					0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48155447	48155447	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:48155447C>T	ENST00000320031.8	+	17	2507	c.2177C>T	c.(2176-2178)aCc>aTc	p.T726I	ITGA3_ENST00000007722.7_Missense_Mutation_p.T726I	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	726					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						ATCGGGGTGACCCTGCACACA	0.602000													14	83					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119428076	119428076	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:119428076G>A	ENST00000369429.3	-	8	1097	c.1088C>T	c.(1087-1089)tCt>tTt	p.S363F	TBX15_ENST00000207157.3_Missense_Mutation_p.S257F			Q96SF7	TBX15_HUMAN	T-box 15	363						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TAAAAGATGAGAAGAAGCCGA	0.493000													5	11					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57334191	57334191	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:57334191C>T	ENST00000326441.9	-	6	858	c.495G>A	c.(493-495)tgG>tgA	p.W165*	ZIM2_ENST00000593931.1_Nonsense_Mutation_p.W40*|PEG3_ENST00000593695.1_Nonsense_Mutation_p.W39*|PEG3_ENST00000423103.2_Nonsense_Mutation_p.W165*|ZIM2_ENST00000391708.3_Nonsense_Mutation_p.W40*|PEG3_ENST00000598410.1_Nonsense_Mutation_p.W40*|ZIM2_ENST00000221722.5_Nonsense_Mutation_p.W40*|ZIM2_ENST00000593711.1_Nonsense_Mutation_p.W40*|ZIM2_ENST00000601070.1_Nonsense_Mutation_p.W40*|ZIM2_ENST00000599935.1_Nonsense_Mutation_p.W40*	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	165					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCCTCCGGTCCCAGTCCCGGT	0.537000													4	19					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155212306	155212306	+	Splice_Site	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:155212306C>T	ENST00000460012.1	-	16	2162	c.1804_splice	c.e16-1	p.G602_splice	PLCH1_ENST00000414191.1_Splice_Site_p.G602_splice|PLCH1_ENST00000340059.7_Splice_Site_p.G620_splice|PLCH1_ENST00000334686.6_Splice_Site_p.G602_splice|PLCH1_ENST00000447496.2_Splice_Site_p.G620_splice|PLCH1_ENST00000494598.1_Splice_Site_p.G620_splice			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	620	PI-PLC Y-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCCTGTGGTTCCTGGCAGTTT	0.363000													12	40					0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12942176	12942176	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:12942176C>T	ENST00000235349.5	-	3	444	c.374G>A	c.(373-375)gGg>gAg	p.G125E		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	125										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGAAGCACCCATGGGCCAT	0.493000													48	185					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	116930426	116930426	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:116930426C>T	ENST00000356083.3	+	3	982	c.591C>T	c.(589-591)ttC>ttT	p.F197F		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	197	Laminin G-like.|TSP N-terminal.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGGGCTCCTTCCTCTTTGGGA	0.607000													23	26					0	0	1	0	0
CLDN16	10686	broad.mit.edu	37	3	190106190	190106190	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:190106190C>T	ENST00000264734.2	+	1	530	c.282C>T	c.(280-282)acC>acT	p.T94T	CLDN16_ENST00000456423.1_Silent_p.T94T|CLDN16_ENST00000468220.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	94					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TTGTGGCCACCTGGACTGACT	0.478000													59	210					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74277017	74277017	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:74277017G>A	ENST00000262765.5	-	9	3962	c.3783C>T	c.(3781-3783)ggC>ggT	p.G1261G		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1261							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TCTGCACACGGCCCAGCAGCT	0.617000													11	39					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87051439	87051439	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:87051439G>A	ENST00000265723.4	-	18	2425	c.2314C>T	c.(2314-2316)Cag>Tag	p.Q772*	ABCB4_ENST00000545634.1_Nonsense_Mutation_p.Q772*|ABCB4_ENST00000453593.1_Nonsense_Mutation_p.Q772*|ABCB4_ENST00000359206.3_Nonsense_Mutation_p.Q772*|ABCB4_ENST00000358400.3_Nonsense_Mutation_p.Q772*	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	772	ABC transmembrane type-1 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GTACCTACCTGAAGGAAGAAA	0.323000													13	15					0	0	1	0	0
DCT	1638	broad.mit.edu	37	13	95118854	95118854	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr13:95118854G>A	ENST00000377028.5	-	3	1067	c.654C>T	c.(652-654)acC>acT	p.T218T	DCT_ENST00000490854.1_5'UTR|DCT_ENST00000446125.1_Silent_p.T218T	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	218					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		ACCGGTGCCAGGTAACAAATG	0.373000													9	38					0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168930	142168930	+	RNA	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:142168930C>T	ENST00000454561.2	-	0	115																											CCTTGATTTTCCTAATAGGAG	0.572000													5	8					0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145580082	145580082	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:145580082G>A	ENST00000296575.3	+	3	1268	c.613G>A	c.(613-615)Gtg>Atg	p.V205M	HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.V205M	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	205						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		ATATGACAAAGTGGAAGAGAT	0.378000													15	55					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73270718	73270718	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:73270718C>T	ENST00000224721.6	+	4	301	c.296C>T	c.(295-297)tCa>tTa	p.S99L	CDH23_ENST00000398809.4_Missense_Mutation_p.S99L|CDH23_ENST00000398842.3_Missense_Mutation_p.S99L|CDH23_ENST00000299366.7_Missense_Mutation_p.S144L|CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000461841.3_Missense_Mutation_p.S144L	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	99	Cadherin 1.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAGACCAAGTCAGAGTTCACC	0.612000													15	60					0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2877596	2877596	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:2877596C>T	ENST00000586426.1	+	4	724	c.637C>T	c.(637-639)Cgt>Tgt	p.R213C	ZNF556_ENST00000307635.2_Missense_Mutation_p.R214C			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACATTTCTTCGTTCCCACTC	0.498000													12	54					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18889240	18889240	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:18889240C>T	ENST00000266505.7	-	3	313	c.50G>A	c.(49-51)gGa>gAa	p.G17E	PLCZ1_ENST00000435379.1_Missense_Mutation_p.G15E|PLCZ1_ENST00000447925.2_Missense_Mutation_p.G15E|PLCZ1_ENST00000539875.1_Missense_Mutation_p.G17E|RP11-361I14.2_ENST00000536931.1_RNA			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	17					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GTTAATTTTTCCACCTCTGAA	0.308000													11	30					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38948883	38948883	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:38948883C>T	ENST00000355481.4	+	18	2249	c.2118C>T	c.(2116-2118)gtC>gtT	p.V706V	RYR1_ENST00000360985.3_Silent_p.V706V|RYR1_ENST00000359596.3_Silent_p.V706V	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	706	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCAACGGGGTCGGCGATGACC	0.657000													25	115					0	0	1	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24502822	24502822	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:24502822C>T	ENST00000357578.3	+	2	571	c.426C>T	c.(424-426)atC>atT	p.I142I	ALDH5A1_ENST00000491546.1_Intron|ALDH5A1_ENST00000348925.2_Silent_p.I142I|ALDH5A1_ENST00000546278.1_Silent_p.I54I	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	142					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	CCAGAATAATCACAGCTGAAA	0.403000													3	26					0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15871661	15871661	+	RNA	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:15871661G>A	ENST00000595525.1	+	0	477				CYP4F24P_ENST00000587443.2_RNA																							AGCCAGAGGTGACCTCTCCTT	0.582000													12	61					0	0	1	0	0
TKT	7086	broad.mit.edu	37	3	53264508	53264508	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:53264508G>A	ENST00000462138.1	-	8	1160	c.1072C>T	c.(1072-1074)Cgc>Tgc	p.R358C	TKT_ENST00000296289.6_Missense_Mutation_p.R311C|TKT_ENST00000423516.1_Missense_Mutation_p.R366C|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423525.2_Missense_Mutation_p.R358C			P29401	TKT_HUMAN	transketolase	358					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	TCGATGAAGCGGTCCGGGTGC	0.602000													18	59					0	0	1	0	0
IL9R	3581	broad.mit.edu	37	X	155231168	155231168	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:155231168G>A	ENST00000540897.1	+	2	178	c.110G>A	c.(109-111)gGa>gAa	p.G37E	IL9R_ENST00000244174.5_Intron|IL9R_ENST00000424344.3_5'UTR|IL9R_ENST00000369423.2_Missense_Mutation_p.G47E	NM_176786.1	NP_789743.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	0					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCCATTCTAGGAAAGGGTGAG	0.552000													38	248					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45717486	45717486	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:45717486G>A	ENST00000297323.7	+	9	1646	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	542					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	ATTAAGAACAGCCTCGGAAAA	0.493000													20	134					0	0	1	0	0
CNIH3	149111	broad.mit.edu	37	1	224872500	224872500	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:224872500G>A	ENST00000272133.3	+	3	1035	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	51					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane				large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		CCTGATAGAGGGAACGGTTGA	0.542000													58	103					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22927425	22927425	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:22927425C>T	ENST00000166244.3	+	15	2645	c.2573C>T	c.(2572-2574)cCc>cTc	p.P858L		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	858	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TACCGCCTGCCCGCACCCATG	0.692000													12	65					0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73658915	73658915	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:73658915G>A	ENST00000420326.2	-	4	574	c.415C>T	c.(415-417)Cag>Tag	p.Q139*	RECQL5_ENST00000423245.2_Nonsense_Mutation_p.Q112*|RECQL5_ENST00000317905.5_Nonsense_Mutation_p.Q139*|RECQL5_ENST00000584999.1_Nonsense_Mutation_p.Q139*|RECQL5_ENST00000340830.5_Nonsense_Mutation_p.Q139*	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	139	Helicase ATP-binding.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGGGTGGGCTGGAAGGAGGAT	0.552000								Other identified genes with known or suspected DNA repair function					46	257					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103317392	103317392	+	Missense_Mutation	SNP	A	A	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:103317392A>C	ENST00000520539.1	-	21	3354	c.2748T>G	c.(2746-2748)tgT>tgG	p.C916W	UBR5_ENST00000521922.1_Missense_Mutation_p.C910W|UBR5_ENST00000220959.4_Missense_Mutation_p.C916W	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	916					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GATTTCCATCACATCTGTGGC	0.393000													31	148					0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50404029	50404029	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:50404029C>T	ENST00000435965.1	-	31	2811	c.2638G>A	c.(2638-2640)Gac>Aac	p.D880N	CACNA2D2_ENST00000360963.3_Missense_Mutation_p.D804N|XXcos-LUCA11.4_ENST00000606665.1_RNA|XXcos-LUCA11.4_ENST00000607121.1_RNA|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.D873N|XXcos-LUCA11.4_ENST00000607583.1_RNA|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.D881N|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.D873N|XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.D874N|XXcos-LUCA11.4_ENST00000607088.1_RNA|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.D873N|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.D880N|XXcos-LUCA11.4_ENST00000606259.1_RNA			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	880					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	ACCTCGCAGTCCATCTCACAG	0.587000													10	35					0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	78958662	78958662	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:78958662C>T	ENST00000370756.3	+	2	471	c.234C>T	c.(232-234)ttC>ttT	p.F78F	PTGFR_ENST00000370757.3_Silent_p.F78F|PTGFR_ENST00000370758.1_Silent_p.F78F	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	78					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	TCACTGATTTCTTTGGCCATC	0.428000													23	89					0	0	1	0	0
OR6C76	390326	broad.mit.edu	37	12	55820708	55820708	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:55820708G>A	ENST00000328314.3	+	1	671	c.671G>A	c.(670-672)aGa>aAa	p.R224K		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ACTATTCTGAGAATCCCCTCA	0.373000													8	25					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089422	9089422	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:9089422G>A	ENST00000397910.4	-	1	2596	c.2393C>T	c.(2392-2394)tCa>tTa	p.S798L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	798	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S798L(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCTTCCCCTGATGGAGATGG	0.522000													50	146					0	0	1	0	0
YEATS4	8089	broad.mit.edu	37	12	69764716	69764716	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:69764716C>T	ENST00000247843.2	+	6	745	c.475C>T	c.(475-477)Cgt>Tgt	p.R159C	YEATS4_ENST00000548020.1_Missense_Mutation_p.R105C	NM_006530.2	NP_006521.1	O95619	YETS4_HUMAN	YEATS domain containing 4	159				R -> C (in Ref. 2; CAC01935).	histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			GACAACATCTCGTCAGCTAAC	0.343000													22	58					0	0	1	0	0
SYT12	91683	broad.mit.edu	37	11	66802139	66802139	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:66802139G>A	ENST00000393946.2	+	6	1220	c.58G>A	c.(58-60)Gag>Aag	p.E20K	SYT12_ENST00000525457.1_Missense_Mutation_p.E20K|SYT12_ENST00000526281.1_Intron|SYT12_ENST00000527043.1_Missense_Mutation_p.E20K			Q8IV01	SYT12_HUMAN	synaptotagmin XII	20						cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CCCTGGCTGGGAGGTGGGTGT	0.647000													8	68					0	0	1	0	0
FCHO2	115548	broad.mit.edu	37	5	72364489	72364489	+	Missense_Mutation	SNP	A	A	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:72364489A>T	ENST00000430046.2	+	19	1578	c.1462A>T	c.(1462-1464)Agc>Tgc	p.S488C	FCHO2_ENST00000341845.6_Missense_Mutation_p.S488C|FCHO2_ENST00000512348.1_Missense_Mutation_p.S455C	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	488	Ser-rich.									cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		CAGGCCATTCAGCCCACCTGT	0.403000													15	44					0	0	1	0	0
PVRIG	79037	broad.mit.edu	37	7	99817587	99817587	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:99817587G>A	ENST00000317271.2	+	2	417	c.54G>A	c.(52-54)gaG>gaA	p.E18E	GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	18						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGGACTGGAGGGGGCCATGG	0.647000													3	6					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121097679	121097679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:121097679C>T	ENST00000273666.6	+	22	2636	c.2365C>T	c.(2365-2367)Cga>Tga	p.R789*	STXBP5L_ENST00000492541.1_Nonsense_Mutation_p.R789*|STXBP5L_ENST00000472879.1_Nonsense_Mutation_p.R765*|STXBP5L_ENST00000471454.1_Nonsense_Mutation_p.R765*|STXBP5L_ENST00000497029.1_Intron	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	789					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.R789*(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ACCACCATTTCGAAAGGCCCA	0.403000													8	36					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50596939	50596939	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:50596939G>A	ENST00000444124.2	-	5	737	c.537C>T	c.(535-537)atC>atT	p.I179I	DDC_ENST00000426377.1_Silent_p.I101I|DDC_ENST00000357936.5_Silent_p.I179I|DDC_ENST00000380984.4_Silent_p.I179I|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000431062.1_Intron	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	179					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GCTTCTCCATGATAGCGGCCT	0.557000													52	85					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12163816	12163816	+	Missense_Mutation	SNP	A	A	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:12163816A>T	ENST00000379388.2	+	9	7611	c.7279A>T	c.(7279-7281)Acg>Tcg	p.T2427S	HIVEP1_ENST00000541134.1_Missense_Mutation_p.T292S	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2427					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGTGCAGCTCACGATCCCTGC	0.522000													42	72					0	0	1	0	0
OR14K1	343170	broad.mit.edu	37	1	247902099	247902099	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:247902099C>T	ENST00000283225.2	+	1	183	c.183C>T	c.(181-183)ctC>ctT	p.L61L	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						ACTTTTTCCTCCGACATTTGT	0.483000													23	105					0	0	1	0	0
KLK3	354	broad.mit.edu	37	19	51363302	51363302	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:51363302C>T	ENST00000326003.2	+	5	746	c.705C>T	c.(703-705)gcC>gcT	p.A235A	KLK3_ENST00000360617.3_3'UTR|KLK3_ENST00000595952.1_Silent_p.A192A	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	235	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		AACCATGTGCCCTGCCCGAAA	0.562000													28	81					0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450125	105450125	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:105450125G>A	ENST00000337685.2	+	5	1485	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	MUM1L1_ENST00000372552.1_Missense_Mutation_p.E234K|MUM1L1_ENST00000357175.2_Missense_Mutation_p.E234K	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	234										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGTTAAAGATGAAAAGTTTGC	0.408000													8	15					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200960249	200960249	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:200960249G>A	ENST00000332129.2	-	18	2799	c.2483C>T	c.(2482-2484)cCc>cTc	p.P828L	KIF21B_ENST00000422435.2_Missense_Mutation_p.P828L|KIF21B_ENST00000360529.5_Missense_Mutation_p.P828L|KIF21B_ENST00000461742.2_Missense_Mutation_p.P828L	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	828					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTCAGACATGGGCTTGGCCAG	0.637000													11	73					0	0	1	0	0
SPNS3	201305	broad.mit.edu	37	17	4389719	4389719	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:4389719C>T	ENST00000355530.2	+	11	1571	c.1291C>T	c.(1291-1293)Ctg>Ttg	p.L431L	SPNS3_ENST00000333476.2_Silent_p.L304L	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	431					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CTCTAGTGTCCTGCGGGCCAG	0.657000													9	35					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136248	55136248	+	Missense_Mutation	SNP	A	A	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:55136248A>G	ENST00000314706.3	+	1	889	c.889A>G	c.(889-891)Aaa>Gaa	p.K297E		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TCCCATTGATAAATCCATGAC	0.403000													48	175					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120833322	120833322	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:120833322G>A	ENST00000527524.2	+	18	2485	c.2198G>A	c.(2197-2199)cGa>cAa	p.R733Q	GRIK4_ENST00000438375.2_Missense_Mutation_p.R733Q			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	733					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TATCGGCAGCGAAACTGCAAC	0.557000													8	51					0	0	1	0	0
NOD1	10392	broad.mit.edu	37	7	30494901	30494901	+	Missense_Mutation	SNP	C	C	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:30494901C>A	ENST00000222823.4	-	5	753	c.228G>T	c.(226-228)caG>caT	p.Q76H	NOD1_ENST00000423334.2_Missense_Mutation_p.Q76H	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	76	CARD.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CGCCCTTGCTCTGTACCAGGT	0.592000													16	38					3.41278e-10	3.43528e-10	1	1	0
SMG5	23381	broad.mit.edu	37	1	156237364	156237364	+	Silent	SNP	C	C	T	rs138984099	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:156237364C>T	ENST00000361813.5	-	10	1158	c.1014G>A	c.(1012-1014)gaG>gaA	p.E338E	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	338					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CCTCCTCATCCTCACTGGCCA	0.532000													41	65					0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88874525	88874525	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:88874525G>A	ENST00000303236.3	-	13	2777	c.2476C>T	c.(2476-2478)Cga>Tga	p.R826*	EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Nonsense_Mutation_p.R675*|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	826	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						ATATGCAATCGATTAGTTTTC	0.398000													43	92					0	0	1	0	0
VAPA	9218	broad.mit.edu	37	18	9954086	9954086	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:9954086G>A	ENST00000400000.2	+	6	883	c.628G>A	c.(628-630)Gat>Aat	p.D210N	VAPA_ENST00000340541.4_Missense_Mutation_p.D255N|VAPA_ENST00000584796.1_3'UTR	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	210					cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity			breast(1)|lung(2)|prostate(1)	4						AGCACATTCGGATAAACCTGG	0.393000													12	50					0	0	1	0	0
CEP85	64793	broad.mit.edu	37	1	26570684	26570684	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:26570684C>T	ENST00000252992.4	+	3	214	c.83C>T	c.(82-84)tCc>tTc	p.S28F	CEP85_ENST00000451429.2_Intron	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	28						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						AAGGGCAGTTCCCTGGGGACT	0.507000													5	14					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94156635	94156635	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:94156635C>T	ENST00000553484.1	+	47	7595	c.7441C>T	c.(7441-7443)Cca>Tca	p.P2481S	UNC79_ENST00000256339.4_Missense_Mutation_p.P2282S|UNC79_ENST00000555664.1_Missense_Mutation_p.P2420S|UNC79_ENST00000393151.2_Missense_Mutation_p.P2459S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2459						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GATTGGATTTCCAGAGCAATC	0.453000													18	70					0	0	1	0	0
TTLL9	164395	broad.mit.edu	37	20	30497647	30497647	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:30497647C>T	ENST00000375938.4	+	6	679	c.426C>T	c.(424-426)acC>acT	p.T142T	TTLL9_ENST00000310998.4_Silent_p.T92T|TTLL9_ENST00000375922.4_Silent_p.T92T|TTLL9_ENST00000375921.2_Silent_p.T92T|TTLL9_ENST00000375934.4_Silent_p.T124T|TTLL9_ENST00000535842.1_Silent_p.T142T			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	142	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCCCCAAAACCTTTGAGATGC	0.542000													23	52					0	0	1	0	0
C21orf128	150147	broad.mit.edu	37	21	43523900	43523900	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr21:43523900C>T	ENST00000329015.2	-	2	484	c.333G>A	c.(331-333)tgG>tgA	p.W111*	UMODL1_ENST00000408910.2_Intron|UMODL1_ENST00000400424.1_Intron|UMODL1_ENST00000408989.2_Intron|UMODL1_ENST00000400427.1_Intron					chromosome 21 open reading frame 128											lung(4)	4						CAAGCACCATCCATCGGTCAC	0.542000													6	6					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17323622	17323622	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:17323622G>A	ENST00000452699.1	-	12	1262	c.1073C>T	c.(1072-1074)cCc>cTc	p.P358L	ATP13A2_ENST00000502860.1_5'UTR|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.P358L|ATP13A2_ENST00000326735.8_Missense_Mutation_p.P363L	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	363					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TGCACAGTAGGGCCCCAGCCC	0.662000													20	83					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36872408	36872408	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:36872408G>A	ENST00000301807.6	-	21	8781	c.6884C>T	c.(6883-6885)tCg>tTg	p.S2295L	TRANK1_ENST00000428977.2_Missense_Mutation_p.S2295L|TRANK1_ENST00000429976.2_Missense_Mutation_p.S2845L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2845					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CACCATATCCGAAACCCTCTT	0.597000													24	65					0	0	1	0	0
HBA1	3039	broad.mit.edu	37	16	227324	227324	+	Missense_Mutation	SNP	C	C	T	rs63751114		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:227324C>T	ENST00000320868.5	+	3	380	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S	HBA1_ENST00000397797.1_Missense_Mutation_p.P83S	NM_000558.3	NP_000549.1	P69905	HBA_HUMAN	hemoglobin, alpha 1	115			P -> L (in Nouakchott).|P -> R (in Chiapas).|P -> S (in Melusine).		hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization	cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			lung(1)	1		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)			Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468)	CGCCCACCTCCCCGCCGAGTT	0.677000											OREG0003687	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	6	25					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200974034	200974034	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:200974034C>T	ENST00000332129.2	-	6	1076	c.760G>A	c.(760-762)Gat>Aat	p.D254N	KIF21B_ENST00000422435.2_Missense_Mutation_p.D254N|KIF21B_ENST00000360529.5_Missense_Mutation_p.D254N|KIF21B_ENST00000461742.2_Missense_Mutation_p.D254N	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	254	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGTGTACCATCAGGAAGCCCA	0.592000													10	116					0	0	1	0	0
SIDT2	51092	broad.mit.edu	37	11	117061419	117061419	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:117061419C>A	ENST00000324225.4	+	18	2229	c.1698C>A	c.(1696-1698)tgC>tgA	p.C566*	SIDT2_ENST00000431081.2_Nonsense_Mutation_p.C563*	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	566						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TCAGTGCTTGCTATCATGTGT	0.537000													4	8					0.014758	0.0147756	1	1	0
KRTAP10-2	386679	broad.mit.edu	37	21	45970656	45970656	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr21:45970656G>A	ENST00000391621.1	-	1	732	c.686C>T	c.(685-687)tCc>tTc	p.S229F	TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	229						keratin filament				large_intestine(1)|lung(4)|skin(1)	6						GGACACAGAGGAGGAGGGTCT	0.632000													28	155					0	0	1	0	0
TOP3A	7156	broad.mit.edu	37	17	18194300	18194300	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:18194300G>A	ENST00000321105.5	-	12	1537	c.1323C>T	c.(1321-1323)ttC>ttT	p.F441F	TOP3A_ENST00000542570.1_Silent_p.F346F|TOP3A_ENST00000540524.1_5'UTR	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	441					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	p.F441F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						AGCAAGCCAGGAAATGGCGAA	0.537000													17	54					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20246068	20246068	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:20246068G>A	ENST00000389656.3	+	22	2627	c.581G>A	c.(580-582)aGa>aAa	p.R194K	RP5-1096J16.1_ENST00000460400.1_RNA|C20orf26_ENST00000377293.1_Missense_Mutation_p.R194K|C20orf26_ENST00000245957.5_Intron|C20orf26_ENST00000377309.2_Intron			Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	0										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GATGGAGGAAGAGCATCAGTG	0.438000													64	341					0	0	1	0	0
IGFBP1	3484	broad.mit.edu	37	7	45930313	45930313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:45930313G>A	ENST00000275525.3	+	2	812	c.516G>A	c.(514-516)tgG>tgA	p.W172*	IGFBP1_ENST00000468955.1_Nonsense_Mutation_p.W172*|IGFBP1_ENST00000457280.1_Nonsense_Mutation_p.W172*	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	172						extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						TCAAAAAATGGAAGGTGAGGC	0.542000											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	106					0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35142676	35142676	+	RNA	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:35142676G>A	ENST00000436258.1	-	0	1811																											TTATCAAAACGAACTCTGCGA	0.338000													15	36					0	0	1	0	0
EIF4A3	9775	broad.mit.edu	37	17	78110088	78110088	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:78110088G>A	ENST00000269349.3	-	10	1251	c.1030C>T	c.(1030-1032)Cct>Tct	p.P344S		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	344	Helicase C-terminal.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			GACACCTGAGGGACATCCAAC	0.438000													10	46					0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142881159	142881159	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:142881159G>A	ENST00000446620.1	+	1	648	c.648G>A	c.(646-648)ggG>ggA	p.G216G		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	216					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TTAACCTGGGGATTGTGACTC	0.468000													46	85					0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43519497	43519497	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:43519497G>A	ENST00000401740.1	-	4	838	c.735C>T	c.(733-735)ttC>ttT	p.F245F	PSG11_ENST00000320078.7_Silent_p.F245F|PSG11_ENST00000403486.1_Silent_p.F123F|PSG11_ENST00000306322.7_Silent_p.F123F			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	245	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TGACTGAAGGGAAAATTCTGG	0.473000													34	112					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143036677	143036677	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:143036677C>T	ENST00000343257.2	+	14	1632	c.1545C>T	c.(1543-1545)atC>atT	p.I515I		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	515					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TTGATGACATCATCTACAAGA	0.438000													29	65					0	0	1	0	0
CD84	8832	broad.mit.edu	37	1	160523701	160523701	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:160523701G>A	ENST00000368054.3	-	3	659	c.624C>T	c.(622-624)gcC>gcT	p.A208A	CD84_ENST00000368051.3_Silent_p.A208A|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000311224.4_Silent_p.A208A|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000534968.1_Silent_p.A94A|CD84_ENST00000368048.3_Silent_p.A208A	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	208					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AGAGCTGCCGGGCAGAGATGG	0.532000													29	32					0	0	1	0	0
TRBV11-2	28581	broad.mit.edu	37	7	142198021	142198021	+	RNA	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:142198021G>A	ENST00000471935.1	-	0	48																											CAGGGTCAGGGAAGGATGGGA	0.572000													10	85					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6128127	6128127	+	Missense_Mutation	SNP	G	G	A	rs149424724	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:6128127G>A	ENST00000261405.5	-	28	4711	c.4457C>T	c.(4456-4458)tCg>tTg	p.S1486L		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1486					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.S1486L(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCCCAGGGTCGAAACCCCCAA	0.592000													12	34					0	0	1	0	0
SERPINA1	5265	broad.mit.edu	37	14	94847429	94847429	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:94847429G>A	ENST00000448921.1	-	5	1268	c.696C>T	c.(694-696)ttC>ttT	p.F232F	SERPINA1_ENST00000449399.3_Silent_p.F232F|SERPINA1_ENST00000404814.4_Silent_p.F232F|SERPINA1_ENST00000437397.1_Silent_p.F232F|SERPINA1_ENST00000355814.4_Silent_p.F232F|SERPINA1_ENST00000440909.1_Silent_p.F232F|SERPINA1_ENST00000393088.4_Silent_p.F232F|SERPINA1_ENST00000393087.4_Silent_p.F232F|SERPINA1_ENST00000402629.1_Silent_p.F232F	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	232					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	GGTCCACGTGGAAGTCCTCTT	0.542000													8	28					0	0	1	0	0
FAM3D	131177	broad.mit.edu	37	3	58631268	58631268	+	Silent	SNP	G	G	A	rs144804892		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:58631268G>A	ENST00000358781.2	-	5	541	c.231C>T	c.(229-231)gtC>gtT	p.V77V		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	77					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		TAGGGCCCACGACGTTGGCGG	0.408000													10	34					0	0	1	0	0
CAMK1D	57118	broad.mit.edu	37	10	12867657	12867657	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:12867657C>T	ENST00000378847.3	+	10	1344	c.1007C>T	c.(1006-1008)tCg>tTg	p.S336L	CAMK1D_ENST00000378845.1_Missense_Mutation_p.S336L	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	336	Ser-rich.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GCAAGTGTTTCGAGCAGCCTC	0.502000													32	110					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156617812	156617812	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:156617812G>A	ENST00000329117.4	+	5	1015	c.679G>A	c.(679-681)Gac>Aac	p.D227N	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.D227N	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	227	Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGTTACGGAGACATGGATGG	0.522000													29	182					0	0	1	0	0
FAM105B	90268	broad.mit.edu	37	5	14681703	14681703	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:14681703C>T	ENST00000284274.4	+	4	533	c.455C>T	c.(454-456)cCg>cTg	p.P152L		NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN	family with sequence similarity 105, member B	152										breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					CTGCAGGACCCGGAGCTCATG	0.542000													5	26					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66192462	66192462	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:66192462G>A	ENST00000311034.2	+	7	2277	c.2101G>A	c.(2101-2103)Gat>Aat	p.D701N		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	701					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GGCTGACCCTGATAACATGTT	0.592000													31	118					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296074	20296074	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:20296074C>T	ENST00000315947.1	+	1	467	c.467C>T	c.(466-468)tCc>tTc	p.S156F	OR4N2_ENST00000568211.1_Missense_Mutation_p.S156F	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTGTCCACTCCATTATCCAG	0.532000													34	296					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197026428	197026428	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:197026428G>A	ENST00000367412.1	-	6	1016	c.973C>T	c.(973-975)Cca>Tca	p.P325S		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	325	Sushi 5.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ATGCATTTTGGAGGTTCTGTC	0.363000													27	130					0	0	1	0	0
GOLM1	51280	broad.mit.edu	37	9	88692332	88692332	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:88692332C>T	ENST00000388712.3	-	3	472	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	GOLM1_ENST00000388711.3_Missense_Mutation_p.E102K|GOLM1_ENST00000257504.6_5'UTR	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	102						Golgi apparatus|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CTTGCCTTTTCGTCCTGGTAC	0.532000													31	57					0	0	1	0	0
PLEKHG7	440107	broad.mit.edu	37	12	93135309	93135309	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:93135309G>A	ENST00000344636.3	+	4	326	c.142G>A	c.(142-144)Gac>Aac	p.D48N	PLEKHG7_ENST00000549856.1_Missense_Mutation_p.D48N	NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	48	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						CATCATCAAGGACTATGTAGA	0.418000													17	83					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89402120	89402120	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:89402120G>A	ENST00000439576.2	+	12	6678	c.6304G>A	c.(6304-6306)Gag>Aag	p.E2102K	ACAN_ENST00000559004.1_Missense_Mutation_p.E2102K|ACAN_ENST00000352105.7_Missense_Mutation_p.E2102K|ACAN_ENST00000561243.1_Missense_Mutation_p.E2102K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2102					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ATCTAGCAGTGAGACGTCCGC	0.572000													10	42					0	0	1	0	0
IHH	3549	broad.mit.edu	37	2	219920173	219920173	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:219920173G>A	ENST00000295731.5	-	3	991	c.992C>T	c.(991-993)cCg>cTg	p.P331L		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	331					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTTGTGAGCGGGGCGTAGGC	0.682000													10	45					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20559409	20559409	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:20559409C>T	ENST00000329697.6	-	8	1241	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q	ACSM2B_ENST00000565322.1_Missense_Mutation_p.R279Q|ACSM2B_ENST00000565232.1_Missense_Mutation_p.R358Q|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Missense_Mutation_p.R358Q	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	358					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ATAGAATTCTCGGATGTCCAG	0.502000													57	157					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35985753	35985753	+	Missense_Mutation	SNP	C	C	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:35985753C>G	ENST00000297866.5	+	10	1684	c.1618C>G	c.(1618-1620)Cgt>Ggt	p.R540G		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	540										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GCCTTCGATCCGTAATCCCAC	0.338000													11	13					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76912604	76912604	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:76912604G>A	ENST00000409709.3	+	36	5236	c.4964G>A	c.(4963-4965)aGg>aAg	p.R1655K	MYO7A_ENST00000409619.2_Missense_Mutation_p.R1606K|MYO7A_ENST00000458637.2_Missense_Mutation_p.R1617K	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1655	SH3.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ATCAATGAGAGGACCAAGCAG	0.607000													14	38					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117846693	117846693	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:117846693G>A	ENST00000350763.4	-	4	2337	c.1926C>T	c.(1924-1926)gcC>gcT	p.A642A	TNC_ENST00000341037.4_Silent_p.A642A|TNC_ENST00000535648.1_Silent_p.A642A|TNC_ENST00000423613.2_Silent_p.A642A|TNC_ENST00000537320.1_Silent_p.A642A|TNC_ENST00000340094.3_Silent_p.A642A|TNC_ENST00000345230.3_Silent_p.A642A|TNC_ENST00000542877.1_Silent_p.A642A|TNC_ENST00000346706.3_Silent_p.A642A	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	642	Fibronectin type-III 1.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CATTGTCCCAGGCCAGGTTGA	0.557000													30	38					0	0	1	0	0
SIRPB2	284759	broad.mit.edu	37	20	1459234	1459234	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:1459234G>A	ENST00000359801.3	-	3	506	c.470C>T	c.(469-471)cCa>cTa	p.P157L	SIRPB2_ENST00000537284.1_Missense_Mutation_p.P19L|SIRPB2_ENST00000381630.1_Missense_Mutation_p.P59L|SIRPB2_ENST00000444444.1_Missense_Mutation_p.P59L	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	157	Ig-like V-type 2.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCACAGGTCTGGTTCAGGGTC	0.557000													18	19					0	0	1	0	0
ZNF557	79230	broad.mit.edu	37	19	7082956	7082956	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:7082956C>T	ENST00000414706.1	+	8	967	c.494C>T	c.(493-495)tCt>tTt	p.S165F	ZNF557_ENST00000439035.2_Missense_Mutation_p.S158F|ZNF557_ENST00000252840.6_Missense_Mutation_p.S165F	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		AGCACAAAATCTTCCCTTACA	0.403000													14	51					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100168359	100168359	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:100168359C>T	ENST00000524871.1	+	19	2607	c.2317C>T	c.(2317-2319)Ccg>Tcg	p.P773S	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.P773S|CNTN5_ENST00000528682.1_Missense_Mutation_p.P773S|CNTN5_ENST00000279463.3_Missense_Mutation_p.P773S|CNTN5_ENST00000418526.2_Missense_Mutation_p.P699S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	773	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATCCACAGTTCCGAAGACAGC	0.423000													3	12					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46099233	46099233	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:46099233G>A	ENST00000295452.4	-	2	405	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	80					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		ATATCTGGACGAAGTTTATTG	0.348000													27	70					0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76828971	76828971	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:76828971C>T	ENST00000248598.5	-	1	172	c.140G>A	c.(139-141)gGg>gAg	p.G47E	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	47					signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TTCGCATTTCCCTCTGCTTTC	0.493000													56	75					0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95033383	95033383	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:95033383G>A	ENST00000557004.1	+	3	1147	c.726G>A	c.(724-726)cgG>cgA	p.R242R	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Silent_p.R242R|SERPINA4_ENST00000298841.5_Silent_p.R242R			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	242					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CAACAGTCCGGGTGCCCATGA	0.502000													19	40					0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51507363	51507363	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:51507363C>T	ENST00000396402.1	-	8	1078	c.925G>A	c.(925-927)Gac>Aac	p.D309N	CYP19A1_ENST00000559878.1_Missense_Mutation_p.D309N|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000396404.4_Missense_Mutation_p.D309N|CYP19A1_ENST00000260433.2_Missense_Mutation_p.D309N	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	309					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	GACATGGTGTCAGGAGCTGCG	0.398000													16	55					0	0	1	0	0
IGBP1	3476	broad.mit.edu	37	X	69370143	69370143	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:69370143C>T	ENST00000342206.6	+	5	1341	c.842C>T	c.(841-843)cCg>cTg	p.P281L	IGBP1_ENST00000356413.4_Missense_Mutation_p.P281L			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	281					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						GGAGCATTACCGGATCAGGGA	0.468000													8	16					0	0	1	0	0
VPS18	57617	broad.mit.edu	37	15	41192313	41192313	+	Missense_Mutation	SNP	T	T	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:41192313T>C	ENST00000220509.5	+	4	1636	c.1297T>C	c.(1297-1299)Tgc>Cgc	p.C433R	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	433					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGCCGATTTCTGCTTTCGCCA	0.612000													32	102					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55955966	55955966	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:55955966G>A	ENST00000263923.4	-	24	3491	c.3196C>T	c.(3196-3198)Cgc>Tgc	p.R1066C	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1066	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AAAGGGAGGCGAGCCTACAGG	0.433000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			25	98					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112176169	112176169	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:112176169C>T	ENST00000457016.1	+	16	5258	c.4878C>T	c.(4876-4878)ccC>ccT	p.P1626P	APC_ENST00000508376.2_Silent_p.P1626P|APC_ENST00000257430.4_Silent_p.P1626P|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1626	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGTTGCAACCCCAAAAGCATG	0.463000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			31	142					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126336588	126336588	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:126336588C>T	ENST00000394329.3	+	5	6483	c.6470C>T	c.(6469-6471)gCt>gTt	p.A2157V	FAT4_ENST00000335110.5_Missense_Mutation_p.A455V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2157	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTTGCACAAGCTTTGTATAAA	0.413000													20	51					0	0	1	0	0
ZNF527	84503	broad.mit.edu	37	19	37879460	37879460	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:37879460G>A	ENST00000436120.2	+	5	616	c.509G>A	c.(508-510)aGa>aAa	p.R170K	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATTCTGGGAGAAGCATACCC	0.373000													16	56					0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57353893	57353893	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:57353893C>T	ENST00000314922.3	-	2	818	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	PENK_ENST00000451791.2_Missense_Mutation_p.E248K	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	248					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	p.E248K(1)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GAGTAACTTTCGCCTTCTTCG	0.502000													62	106					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33916057	33916057	+	Missense_Mutation	SNP	C	C	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:33916057C>G	ENST00000389232.4	+	20	2477	c.2407C>G	c.(2407-2409)Ccc>Gcc	p.P803A	RYR3_ENST00000415757.3_Missense_Mutation_p.P803A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	803					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTTCCTGCCTCCCTCTGGCTA	0.423000													18	75					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124767006	124767006	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:124767006C>T	ENST00000306534.3	-	2	707	c.222G>A	c.(220-222)atG>atA	p.M74I	ROBO4_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_Intron	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	74	Ig-like C2-type 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CTGGGGGCACCATGCTCAGGG	0.677000													11	15					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069895	9069895	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:9069895G>A	ENST00000397910.4	-	3	17754	c.17551C>T	c.(17551-17553)Cct>Tct	p.P5851S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5853	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTACAAAAGGAAAAGTGGAG	0.478000													38	149					0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73482443	73482443	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:73482443G>A	ENST00000314256.7	+	5	739	c.345G>A	c.(343-345)cgG>cgA	p.R115R	KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000583795.1_3'UTR|KIAA0195_ENST00000375248.5_Silent_p.R125R	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	115					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCATCGGGCGGCAAGACCGGC	0.597000													5	213					0	0	1	0	0
PEPD	5184	broad.mit.edu	37	19	34003558	34003558	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:34003558G>A	ENST00000244137.6	-	2	175	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L	PEPD_ENST00000436370.3_Silent_p.L48L|PEPD_ENST00000397032.4_Silent_p.L48L	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	48					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					CCGCCCTGCAGGACCACGATG	0.662000													14	32					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28284054	28284054	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:28284054C>T	ENST00000305242.5	-	2	110	c.18G>A	c.(16-18)agG>agA	p.R6R		NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	6							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GCGTCAATTTCCTCAGAGCCA	0.483000													9	24					0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	397559	397559	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:397559C>T	ENST00000331563.2	+	4	1041	c.965C>T	c.(964-966)cCc>cTc	p.P322L		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	322					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATTGACCTGCCCTCAGCAGTC	0.612000													15	72					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47897422	47897422	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:47897422G>A	ENST00000289672.2	-	28	4421	c.4371C>T	c.(4369-4371)ctC>ctT	p.L1457L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1457	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGTTCAAAGAGAGACAACCCT	0.463000													17	37					0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55212937	55212937	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:55212937G>A	ENST00000447346.2	+	15	2349	c.2284G>A	c.(2284-2286)Gga>Aga	p.G762R	IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000359040.5_Intron|IL31RA_ENST00000490985.1_Missense_Mutation_p.G620R	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	730					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GCACACCAAGGGAGAAGTCTA	0.502000													19	68					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150526119	150526119	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:150526119G>A	ENST00000271643.4	+	6	888	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.E218K|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.E218K|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.E218K|RP11-54A4.2_ENST00000442435.2_RNA	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	218					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCCTCCCACAGAACTGTCTGT	0.602000													25	166					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38877373	38877373	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:38877373G>A	ENST00000359357.3	+	63	9196	c.8942G>A	c.(8941-8943)tGg>tAg	p.W2981*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.W2945*|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.W3198*					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCAGCCGCTGGCCAAGGGAG	0.448000													18	74					0	0	1	0	0
APOBEC3G	60489	broad.mit.edu	37	22	39475066	39475066	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:39475066G>A	ENST00000407997.3	+	2	504	c.147G>A	c.(145-147)ttG>ttA	p.L49L	APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Silent_p.L49L	NM_021822.3	NP_068594.1			apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G											central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					GGCCCCCTTTGGACGCAAAGA	0.507000													12	54					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11468727	11468727	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:11468727G>A	ENST00000423059.3	-	14	3341	c.3090C>T	c.(3088-3090)atC>atT	p.I1030I	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1030	TSP type-1 10.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AGGGGCAGGGGATGATGCAGG	0.532000										HNSCC(18;0.044)			53	98					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70942628	70942628	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:70942628C>T	ENST00000393567.2	-	48	8291	c.8141G>A	c.(8140-8142)gGa>gAa	p.G2714E		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2714										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGAAATGGTTCCAGCAGGTTC	0.502000													5	13					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887648	3887648	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:3887648G>A	ENST00000319331.3	+	2	2084	c.1323G>A	c.(1321-1323)acG>acA	p.T441T	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	441	Ig-like C2-type.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ATATCGGCACGACGGTTTTCC	0.458000													19	60					0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28544292	28544292	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:28544292C>T	ENST00000401766.2	-	5	1241	c.729G>A	c.(727-729)aaG>aaA	p.K243K	SLC6A4_ENST00000261707.3_Silent_p.K243K			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	243					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CCTGGAGCCCCTTAGACCGGT	0.582000													36	96					0	0	1	0	0
SH3YL1	26751	broad.mit.edu	37	2	229993	229993	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:229993G>A	ENST00000403657.1	-	11	2661	c.466C>T	c.(466-468)Cca>Tca	p.P156S	SH3YL1_ENST00000356150.5_Missense_Mutation_p.P252S|SH3YL1_ENST00000403658.1_Missense_Mutation_p.P156S|SH3YL1_ENST00000468321.1_5'UTR|SH3YL1_ENST00000415006.2_Missense_Mutation_p.P156S|SH3YL1_ENST00000403712.2_Missense_Mutation_p.P252S|SH3YL1_ENST00000405430.1_Missense_Mutation_p.P252S			Q96HL8	SH3Y1_HUMAN	SH3 and SYLF domain containing 1	252										large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)		AGCTGGACTGGTGCAGATGAC	0.313000													14	47					0	0	1	0	0
IFNLR1	163702	broad.mit.edu	37	1	24483662	24483662	+	Silent	SNP	G	G	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:24483662G>C	ENST00000327535.1	-	7	1533	c.1521C>G	c.(1519-1521)acC>acG	p.T507T	IFNLR1_ENST00000374421.3_Silent_p.T478T|IFNLR1_ENST00000327575.2_3'UTR	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1			interferon, lambda receptor 1																		CCCTGTCCTCGGTCCTCTGGG	0.612000													12	58					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321255	79321255	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:79321255C>T	ENST00000428286.1	-	8	6058	c.4858G>A	c.(4858-4860)Gaa>Aaa	p.E1620K	PRUNE2_ENST00000376718.3_Missense_Mutation_p.E1979K			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1979					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAACTATTTTCCTCTGCGTGA	0.433000													47	58					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179410839	179410839	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:179410839G>A	ENST00000589042.1	-	343	95348	c.95124C>T	c.(95122-95124)tcC>tcT	p.S31708S	TTN_ENST00000342175.6_Silent_p.S22835S|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Silent_p.S29140S|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.S22768S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Silent_p.S30067S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.S22643S|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30067	Fibronectin type-III 130.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGGCCAGGGGAATCTGAAA	0.473000													13	55					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34558811	34558811	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:34558811G>A	ENST00000374789.3	-	22	3527	c.3202C>T	c.(3202-3204)Cga>Tga	p.R1068*	PARD3_ENST00000374790.3_Nonsense_Mutation_p.R1008*|PARD3_ENST00000350537.4_Nonsense_Mutation_p.R1022*|PARD3_ENST00000346874.4_Nonsense_Mutation_p.R1031*|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000374794.3_Nonsense_Mutation_p.R956*|PARD3_ENST00000545693.1_Nonsense_Mutation_p.R1052*|PARD3_ENST00000545260.1_Nonsense_Mutation_p.R978*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.R1065*	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1068					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CTAAATTCTCGAGTTTTGGCT	0.368000													8	16					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14859208	14859208	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:14859208G>A	ENST00000380881.4	-	5	1419	c.604C>T	c.(604-606)Cag>Tag	p.Q202*	FREM1_ENST00000422223.2_Nonsense_Mutation_p.Q202*|FREM1_ENST00000380880.3_Nonsense_Mutation_p.Q202*			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	202					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.Q202*(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTGTGTGGCTGATCTCCACGA	0.517000													19	24					0	0	1	0	0
INSIG1	3638	broad.mit.edu	37	7	155093324	155093324	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:155093324C>T	ENST00000340368.4	+	3	672	c.461C>T	c.(460-462)cCc>cTc	p.P154L	INSIG1_ENST00000344756.4_Intron|INSIG1_ENST00000342407.5_Intron	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	154					cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCGGAGAACCCCACAAATTT	0.438000													17	174					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72193565	72193565	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:72193565G>A	ENST00000356056.5	-	23	3589	c.3117C>T	c.(3115-3117)ttC>ttT	p.F1039F	MYO9A_ENST00000444904.1_Silent_p.F1020F|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Silent_p.F659F|MYO9A_ENST00000564571.1_Silent_p.F1039F|MYO9A_ENST00000424560.1_Silent_p.F1039F	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1039	IQ 1.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCAGATGGAGGAAATGCTGCC	0.443000													13	35					0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124179743	124179743	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:124179743C>T	ENST00000357821.2	-	1	990	c.920G>A	c.(919-921)gGa>gAa	p.G307E		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GACTCATTTTCCTACTAAGAC	0.368000													11	20					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216230322	216230322	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:216230322C>T	ENST00000354785.4	-	43	7419	c.7050G>A	c.(7048-7050)aaG>aaA	p.K2350K	FN1_ENST00000432072.2_Silent_p.K2140K|FN1_ENST00000356005.4_Silent_p.K2169K|FN1_ENST00000357867.4_Silent_p.K2049K|FN1_ENST00000346544.3_Silent_p.K2084K|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000443816.1_Silent_p.K2138K|FN1_ENST00000446046.1_Silent_p.K2203K|FN1_ENST00000345488.5_Silent_p.K2057K|FN1_ENST00000359671.1_Silent_p.K2259K|FN1_ENST00000336916.4_Silent_p.K2228K|FN1_ENST00000421182.1_Silent_p.K2113K|FN1_ENST00000323926.6_Silent_p.K2319K			P02751	FINC_HUMAN	fibronectin 1	2259					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTCTCCAATCTTGTAGTTCA	0.463000													25	92					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40318550	40318550	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:40318550G>A	ENST00000264661.3	-	10	1937	c.1605C>T	c.(1603-1605)ttC>ttT	p.F535F	KCNH4_ENST00000607371.1_Silent_p.F535F	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	535					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCTCGTCTGGGAAGTCACGCA	0.562000													24	44					0	0	1	0	0
ASIC1	41	broad.mit.edu	37	12	50474461	50474461	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:50474461C>T	ENST00000228468.4	+	9	1771	c.1386C>T	c.(1384-1386)tcC>tcT	p.S462S	ASIC1_ENST00000552438.1_Intron|ASIC1_ENST00000447966.2_Intron	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	433					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CACTTCTGTCCCATGAGGGTC	0.572000													6	20					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111981904	111981904	+	Missense_Mutation	SNP	A	A	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:111981904A>G	ENST00000305815.5	-	10	1316	c.1064T>C	c.(1063-1065)gTt>gCt	p.V355A	SLC9C1_ENST00000487372.1_Missense_Mutation_p.V307A	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	355					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CTCATGACCAACTCGAGACAA	0.368000													10	67					0	0	1	0	0
F2RL1	2150	broad.mit.edu	37	5	76128663	76128663	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:76128663C>T	ENST00000296677.4	+	2	437	c.231C>T	c.(229-231)ttC>ttT	p.F77F		NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	77					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CCACTGTCTTCCTTCCAATTG	0.468000													35	116					0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74904576	74904576	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:74904576C>T	ENST00000289575.5	+	9	1784	c.1389C>T	c.(1387-1389)atC>atT	p.I463I	SLCO2B1_ENST00000341411.4_Silent_p.I236I|SLCO2B1_ENST00000454962.2_Silent_p.I236I|SLCO2B1_ENST00000428359.2_Silent_p.I441I|SLCO2B1_ENST00000532236.1_Silent_p.I347I|SLCO2B1_ENST00000525650.1_Silent_p.I319I|SLCO2B1_ENST00000531756.1_Silent_p.I208I	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	463					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	TCTTCTTTATCGGCTGCTCCA	0.627000													7	28					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11732252	11732252	+	Missense_Mutation	SNP	T	T	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:11732252T>C	ENST00000304623.8	-	2	359	c.170A>G	c.(169-171)gAa>gGa	p.E57G	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.E57G	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	57					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTCTACCTGTTCTTTGACTGA	0.423000													20	106					0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196918720	196918720	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:196918720C>T	ENST00000367415.4	+	2	308	c.194C>T	c.(193-195)tCc>tTc	p.S65F	CFHR2_ENST00000367421.3_Missense_Mutation_p.S65F|CFHR2_ENST00000476712.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	65	Sushi 1.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						CCTTCAAAATCCTTTTGGACT	0.378000													38	35					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52469455	52469455	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:52469455C>T	ENST00000356297.4	-	4	425	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	PXDNL_ENST00000543296.1_Missense_Mutation_p.E109K	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	109					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCATGGATTTCATTCTTATAC	0.279000													10	24					0	0	1	0	0
CDH24	64403	broad.mit.edu	37	14	23517517	23517517	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:23517517G>A	ENST00000397359.3	-	13	2391	c.2132C>T	c.(2131-2133)cCc>cTc	p.P711L	CDH24_ENST00000554034.1_Missense_Mutation_p.P673L|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000267383.5_Missense_Mutation_p.P711L|CDH24_ENST00000487137.2_Missense_Mutation_p.P673L	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	711					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		gggcgccgggggggccgcccc	0.761000													20	81					0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60813545	60813545	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:60813545G>A	ENST00000544856.2	-	7	2059	c.1681C>T	c.(1681-1683)Ctc>Ttc	p.L561F	RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.L562F|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.L600F|MARCH10_ENST00000311269.5_Missense_Mutation_p.L562F			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	562							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TTTAGTAAGAGATCTGTATAT	0.443000													47	97					0	0	1	0	0
MRPL40	64976	broad.mit.edu	37	22	19423218	19423218	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:19423218G>A	ENST00000333130.3	+	4	1007	c.354G>A	c.(352-354)ctG>ctA	p.L118L	MRPL40_ENST00000471259.1_3'UTR|HIRA_ENST00000541063.1_Intron|HIRA_ENST00000546308.1_Intron	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40	118					anatomical structure morphogenesis	mitochondrial ribosome|nucleus				endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CTCTGCTTCTGAAGAAGTGGT	0.527000													96	182					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5283195	5283195	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:5283195G>A	ENST00000546004.1	-	3	892	c.646C>T	c.(646-648)Cag>Tag	p.Q216*	PROKR2_ENST00000217270.3_Nonsense_Mutation_p.Q216*			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	216						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TAGAGCTGCTGATCCACAGGC	0.522000										HNSCC(71;0.22)			52	100					0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50544992	50544992	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:50544992C>T	ENST00000595661.1	+	5	637	c.142C>T	c.(142-144)Cca>Tca	p.P48S	ZNF473_ENST00000445728.3_Missense_Mutation_p.P36S|ZNF473_ENST00000391821.2_Missense_Mutation_p.P48S|ZNF473_ENST00000601364.1_Missense_Mutation_p.P48S|ZNF473_ENST00000270617.3_Missense_Mutation_p.P48S			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	48	KRAB.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TGCAGACCCCCCAAGACCCAA	0.567000													22	78					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3441294	3441294	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:3441294C>T	ENST00000344733.5	+	18	5131	c.4227C>T	c.(4225-4227)ggC>ggT	p.G1409G	RGS12_ENST00000338806.4_Silent_p.G761G	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1409						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CACAGGCTGGCCCTGGGAGGT	0.662000													13	41					0	0	1	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50987520	50987520	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:50987520C>T	ENST00000395676.2	+	1	1059	c.925C>T	c.(925-927)Cct>Tct	p.P309S		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	309										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGAGGAGCCTCCTGCGGCGGC	0.746000													52	66					0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45522840	45522840	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr21:45522840C>T	ENST00000291574.4	+	22	3703	c.3528C>T	c.(3526-3528)tcC>tcT	p.S1176S		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1176					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CACACTCCTCCCAACTGGACG	0.522000													20	72					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168180967	168180967	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:168180967G>A	ENST00000519560.1	-	17	2150	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F	SLIT3_ENST00000404867.3_Silent_p.F577F|SLIT3_ENST00000332966.8_Silent_p.F577F	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	577					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGCTCCATCGAAAGCTCCCT	0.532000													8	17					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50535102	50535102	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:50535102G>A	ENST00000267845.3	-	12	1746	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	HDC_ENST00000543581.1_Silent_p.F415F	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	448					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	ATGTCACAGTGAAACGGATGA	0.473000													13	45					0	0	1	0	0
TMX3	54495	broad.mit.edu	37	18	66378639	66378639	+	Splice_Site	SNP	A	A	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:66378639A>G	ENST00000299608.2	-	3	419	c.101_splice	c.e3-1	p.F35_splice	TMX3_ENST00000443099.2_Splice_Site_p.F35_splice|TMX3_ENST00000562706.1_Splice_Site_p.F35_splice	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	35	Thioredoxin.				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						TTTTCTTTAAACCTAAAAAAC	0.279000													8	47					0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	376690	376690	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:376690C>T	ENST00000329962.6	+	14	1567	c.1567C>T	c.(1567-1569)Cca>Tca	p.P523S		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	523	Pro-rich.					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGCCGCCCCCAAAGGTGTA	0.771000													3	3					0	0	1	0	0
CPA4	51200	broad.mit.edu	37	7	129946681	129946681	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:129946681G>A	ENST00000222482.4	+	7	674	c.646G>A	c.(646-648)Gat>Aat	p.D216N	CPA4_ENST00000445470.2_Missense_Mutation_p.D183N|CPA4_ENST00000493259.1_Missense_Mutation_p.D112N	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	216					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					GGAGAAAATGGATATTTTCTT	0.448000													5	90					0	0	1	0	0
PITX2	5308	broad.mit.edu	37	4	111539771	111539771	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:111539771C>T	ENST00000394595.3	-	4	513	c.258G>A	c.(256-258)tgG>tgA	p.W86*	PITX2_ENST00000394598.2_Missense_Mutation_p.G155D|PITX2_ENST00000355080.5_Missense_Mutation_p.G109D|PITX2_ENST00000556049.1_5'UTR|PITX2_ENST00000306732.3_Missense_Mutation_p.G162D|PITX2_ENST00000354925.2_Missense_Mutation_p.G155D			Q99697	PITX2_HUMAN	paired-like homeodomain 2	179					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CGGCCCGAAGCCATTCTTGCA	0.592000													19	68					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152826144	152826144	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:152826144C>T	ENST00000370186.1	+	17	3134	c.2808C>T	c.(2806-2808)ttC>ttT	p.F936F	ATP2B3_ENST00000263519.4_Silent_p.F950F|ATP2B3_ENST00000393842.1_Silent_p.F936F|ATP2B3_ENST00000349466.2_Silent_p.F950F|ATP2B3_ENST00000359149.3_Silent_p.F950F|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000370181.2_Silent_p.F936F			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	950					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGCTCTTCTTCGACATCG	0.552000													14	17					0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	141889014	141889014	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:141889014G>A	ENST00000306799.3	-	2	1151	c.498C>T	c.(496-498)atC>atT	p.I166I	RNF150_ENST00000379512.2_Silent_p.I25I|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000515673.1_Silent_p.I166I|RNF150_ENST00000420921.2_Silent_p.I25I|RNF150_ENST00000507500.1_Silent_p.I166I	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	166	PA.					integral to membrane	zinc ion binding	p.I75I(1)		breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TTATGGCCACGATGTCTTCTA	0.488000													12	70					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873937	36873937	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:36873937C>T	ENST00000301807.6	-	21	7252	c.5355G>A	c.(5353-5355)agG>agA	p.R1785R	TRANK1_ENST00000428977.2_Silent_p.R1785R|TRANK1_ENST00000429976.2_Silent_p.R2335R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2335					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCCTTTTATCCTGCTGCCTC	0.488000													20	98					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255890	140255890	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140255890C>T	ENST00000398631.2	+	1	833	c.833C>T	c.(832-834)tCc>tTc	p.S278F	PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1												p.S278F(2)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAAATTTCCTATGGGATC	0.368000													34	117					0	0	1	0	0
BOP1	23246	broad.mit.edu	37	8	145512977	145512977	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:145512977G>A	ENST00000307404.5	-	2	137	c.108C>T	c.(106-108)ctC>ctT	p.L36L	BOP1_ENST00000529231.1_5'UTR	NM_015201.3	NP_056016.1	Q14137	BOP1_HUMAN	block of proliferation 1	36					cell proliferation|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	nucleoplasm|PeBoW complex	protein binding			lung(1)|urinary_tract(2)	3	all_cancers(97;4.06e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;2.61e-39)|all cancers(56;1.37e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.087)			AGGTGCAGAGGAGGGGGGGCT	0.632000													9	21					0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14029594	14029594	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:14029594C>T	ENST00000311895.7	+	8	1814	c.1805C>T	c.(1804-1806)cCt>cTt	p.P602L		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	602					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CCTGGGAAACCTCTGAGGCAA	0.418000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				17	65					0	0	1	0	0
SLC7A11	23657	broad.mit.edu	37	4	139140442	139140442	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:139140442C>T	ENST00000280612.5	-	5	1003	c.724G>A	c.(724-726)Gga>Aga	p.G242R		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	242					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	GCATACATTCCATAATAAAAA	0.403000													21	61					0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130021485	130021485	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:130021485G>A	ENST00000011292.3	+	3	312	c.162G>A	c.(160-162)cgG>cgA	p.R54R	CPA1_ENST00000484324.1_5'UTR	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	54					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					ACTTCTGGCGGGGGCCTGCCC	0.682000													13	88					0	0	1	0	0
CAPN10	11132	broad.mit.edu	37	2	241535900	241535900	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:241535900C>T	ENST00000391984.2	+	8	1639	c.1443C>T	c.(1441-1443)ttC>ttT	p.F481F	CAPN10_ENST00000404753.3_Silent_p.F481F|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Intron|CAPN10_ENST00000352879.4_Intron	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	481	Domain III 1.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		CAGGGGAGTTCCTGCTCCGAG	0.637000													11	49					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42718841	42718841	+	Missense_Mutation	SNP	T	T	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:42718841T>C	ENST00000230882.4	+	10	1422	c.1232T>C	c.(1231-1233)gTt>gCt	p.V411A	GHR_ENST00000357703.3_Missense_Mutation_p.V389A|GHR_ENST00000537449.1_Missense_Mutation_p.V224A|GHR_ENST00000513625.1_3'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	411					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ACCTCAGAGGTTGCTCAGCCA	0.478000													27	84					0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96708988	96708988	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:96708988G>A	ENST00000260682.6	+	5	778	c.766G>A	c.(766-768)Gac>Aac	p.D256N		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	256					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	AGAATCAATGGACATGAACAA	0.328000													20	65					0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35236569	35236569	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:35236569C>T	ENST00000378495.3	+	4	478	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C	UNC13B_ENST00000396787.1_Missense_Mutation_p.R86C|UNC13B_ENST00000378496.4_Missense_Mutation_p.R86C	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	86					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GAAGACTATTCGTCAGTCGGA	0.498000													30	113					0	0	1	0	0
RAC1	5879	broad.mit.edu	37	7	6426893	6426893	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:6426893C>T	ENST00000348035.4	+	2	299	c.86C>T	c.(85-87)cCt>cTt	p.P29L	RAC1_ENST00000356142.4_Missense_Mutation_p.P29L|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	29					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	AATGCATTTCCTGGAGAATAT	0.353000													24	34					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655306	46655306	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:46655306C>T	ENST00000253255.5	-	1	3913	c.3914G>A	c.(3913-3915)cGa>cAa	p.R1305Q		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1305	PLAT.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GCTAGGCGATCGACCCTCGTT	0.453000													52	71					0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12942930	12942930	+	Missense_Mutation	SNP	G	G	A	rs76269416		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:12942930G>A	ENST00000235349.5	-	2	356	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	96										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACCTGGGACGAACCCCTAGG	0.622000													10	53					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059101	11059101	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:11059101G>A	ENST00000287766.4	+	3	625	c.204G>A	c.(202-204)tgG>tgA	p.W68*	SLC6A1_ENST00000536032.1_Intron|SLC6A1_ENST00000462473.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	68					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GCAACGTCTGGAGGTTCCCCT	0.622000													17	67					0	0	1	0	0
CLRN1	7401	broad.mit.edu	37	3	150645820	150645820	+	Missense_Mutation	SNP	A	A	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:150645820A>T	ENST00000327047.1	-	3	892	c.602T>A	c.(601-603)cTg>cAg	p.L201Q	RP11-166N6.2_ENST00000469268.1_RNA|CLRN1_ENST00000295911.2_Intron|RP11-166N6.3_ENST00000569170.1_Intron|CLRN1_ENST00000328863.4_Missense_Mutation_p.L214Q|CLRN1-AS1_ENST00000476886.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	201					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GAGCCCATTCAGAAAATGAAC	0.353000													19	43					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34763552	34763552	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:34763552C>T	ENST00000338074.2	+	3	418	c.257C>T	c.(256-258)tCg>tTg	p.S86L	EPB41L1_ENST00000373941.1_Missense_Mutation_p.S86L|EPB41L1_ENST00000441639.1_Missense_Mutation_p.S24L|EPB41L1_ENST00000373946.3_Missense_Mutation_p.S55L|EPB41L1_ENST00000202028.5_Missense_Mutation_p.S24L|EPB41L1_ENST00000373950.2_Missense_Mutation_p.S24L	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	86					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GCCCAGAAATCGCCCCAGAAG	0.567000													13	66					0	0	1	0	0
APOBEC3G	60489	broad.mit.edu	37	22	39475067	39475067	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:39475067G>A	ENST00000407997.3	+	2	505	c.148G>A	c.(148-150)Gac>Aac	p.D50N	APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Missense_Mutation_p.D50N	NM_021822.3	NP_068594.1			apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G											central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					GCCCCCTTTGGACGCAAAGAT	0.502000													11	53					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76893017	76893017	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:76893017G>A	ENST00000409709.3	+	24	3197	c.2925G>A	c.(2923-2925)agG>agA	p.R975R	MYO7A_ENST00000409619.2_Silent_p.R964R|MYO7A_ENST00000458637.2_Silent_p.R975R|MYO7A_ENST00000409893.1_Silent_p.R975R	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	975					actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAGGGCGGAGGGAGATGGTGG	0.597000													17	79					0	0	1	0	0
MYL7	58498	broad.mit.edu	37	7	44178582	44178582	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:44178582C>T	ENST00000458240.1	-	6	673	c.385G>A	c.(385-387)Ggg>Agg	p.G129R	MYL7_ENST00000223364.3_Missense_Mutation_p.G156R|MYL7_ENST00000434895.1_5'UTR			Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory	156	EF-hand 2.				actin filament-based movement|smooth muscle contraction	A band|myosin complex	ATPase activity, coupled|calcium ion binding|microfilament motor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						TCGATGTTCCCCGCCAGGTCC	0.622000													10	78					0	0	1	0	0
ACO1	48	broad.mit.edu	37	9	32430468	32430468	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:32430468G>A	ENST00000379923.1	+	15	1828	c.1622G>A	c.(1621-1623)cGa>cAa	p.R541Q	ACO1_ENST00000309951.5_Missense_Mutation_p.R541Q|ACO1_ENST00000541043.1_Missense_Mutation_p.R442Q	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	541					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TTTGAAGGTCGAGTTCACCCC	0.453000													28	111					0	0	1	0	0
SNX8	29886	broad.mit.edu	37	7	2302895	2302895	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:2302895G>A	ENST00000222990.3	-	7	927	c.885C>T	c.(883-885)ttC>ttT	p.F295F		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	295					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CGAGCAGCGCGAATTCCACAG	0.617000													27	42					0	0	1	0	0
PRMT1	3276	broad.mit.edu	37	19	50189399	50189399	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:50189399C>T	ENST00000532489.1	+	9	1177	c.671C>T	c.(670-672)cCg>cTg	p.P224L	PRMT1_ENST00000454376.2_Missense_Mutation_p.P270L|PRMT1_ENST00000391851.4_Missense_Mutation_p.P252L			Q8WUW5	Q8WUW5_HUMAN	protein arginine methyltransferase 1	251						cytoplasm	protein methyltransferase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		TTCACCTCCCCGTTCTGCCTG	0.592000													15	35					0	0	1	0	0
RIC8B	55188	broad.mit.edu	37	12	107237692	107237692	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:107237692C>T	ENST00000392837.4	+	6	1279	c.1128C>T	c.(1126-1128)gcC>gcT	p.A376A	RIC8B_ENST00000355478.2_Silent_p.A336A|RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000392839.2_Silent_p.A376A			Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	376					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						GTTCCCGAGCCCATCGAAACA	0.333000													9	48					0	0	1	0	0
REPS2	9185	broad.mit.edu	37	X	17095492	17095492	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:17095492C>T	ENST00000357277.3	+	13	1649	c.1478C>T	c.(1477-1479)tCc>tTc	p.S493F	REPS2_ENST00000303843.7_Missense_Mutation_p.S492F|REPS2_ENST00000469714.1_Intron|REPS2_ENST00000380064.4_Intron	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	493	Pro-rich.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					AGAGCCTCCTCCTTGGATCTG	0.572000													23	34					0	0	1	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917949	48917949	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:48917949G>A	ENST00000311378.4	+	2	1828	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.E341K	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	434	BPTI/Kunitz inhibitor 2.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GGCCTGTGAGGAGTCGTGCCC	0.617000													17	93					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849624	73849624	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:73849624C>T	ENST00000523207.1	+	3	2622	c.2034C>T	c.(2032-2034)ctC>ctT	p.L678L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	678					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.L678L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTGTGAACCTCGATGCCAGTG	0.542000													36	56					0	0	1	0	0
KLK7	5650	broad.mit.edu	37	19	51480881	51480881	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:51480881G>A	ENST00000391807.1	-	6	774	c.673C>T	c.(673-675)Cct>Tct	p.P225S	KLK7_ENST00000595820.1_Missense_Mutation_p.P225S|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000336317.4_Missense_Mutation_p.P112S|KLK7_ENST00000597707.1_Missense_Mutation_p.P153S	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	225	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		TGGCCGCAAGGGAAAGTTCCC	0.527000													18	77					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24923763	24923763	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:24923763G>A	ENST00000329468.2	+	1	3223	c.2749G>A	c.(2749-2751)Ggg>Agg	p.G917R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TTTTATTCTGGGGAATCCAGC	0.478000													29	109					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150554639	150554639	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:150554639G>A	ENST00000493429.1	+	4	1665	c.1081G>A	c.(1081-1083)Gga>Aga	p.G361R	AOC1_ENST00000360937.4_Missense_Mutation_p.G361R|AOC1_ENST00000467291.1_Missense_Mutation_p.G361R|AOC1_ENST00000416793.2_Missense_Mutation_p.G361R					amine oxidase, copper containing 1																		GCTGTATGGAGGACACACACC	0.642000													46	128					0	0	1	0	0
NLGN2	57555	broad.mit.edu	37	17	7318372	7318372	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:7318372G>A	ENST00000302926.2	+	5	1015	c.942G>A	c.(940-942)aaG>aaA	p.K314K	NLGN2_ENST00000575301.1_Silent_p.K314K	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	314					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				TGGCAGCCAAGGTGGGCTGTG	0.652000													17	62					0	0	1	0	0
APOM	55937	broad.mit.edu	37	6	31624327	31624327	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:31624327C>T	ENST00000375916.3	+	2	689	c.193C>T	c.(193-195)Cct>Tct	p.P65S	APOM_ENST00000375918.2_5'UTR|APOM_ENST00000375920.4_5'UTR	NM_019101.2	NP_061974.2	O95445	APOM_HUMAN	apolipoprotein M	65					cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1)	7						AACTTTTGACCCTGTGGACAA	0.557000													26	144					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21783578	21783578	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:21783578C>T	ENST00000382254.1	-	11	2368	c.1282G>A	c.(1282-1284)Ggg>Agg	p.G428R	CDH12_ENST00000504376.2_Missense_Mutation_p.G428R|CDH12_ENST00000522262.1_Missense_Mutation_p.G388R|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	428	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TAGCTGTCCCCATCACTCTTC	0.373000										HNSCC(59;0.17)			24	103					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73727395	73727395	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:73727395C>T	ENST00000200181.3	+	10	1348	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S	ITGB4_ENST00000339591.3_Silent_p.S387S|ITGB4_ENST00000449880.2_Silent_p.S387S|ITGB4_ENST00000450894.3_Silent_p.S387S|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Silent_p.S387S	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	387					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGTCACCTCCAAGATGTTCC	0.637000													25	100					0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5758566	5758566	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:5758566G>A	ENST00000317121.3	+	1	886	c.820G>A	c.(820-822)Gag>Aag	p.E274K	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TCATCTGACAGAGATGAAGGC	0.438000													55	216					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47556871	47556871	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:47556871C>T	ENST00000273859.3	+	11	2033	c.1764C>T	c.(1762-1764)ttC>ttT	p.F588F		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	588					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TCGACTTTTTCATTGCATTGG	0.403000													16	74					0	0	1	0	0
PDS5A	23244	broad.mit.edu	37	4	39891957	39891957	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:39891957G>A	ENST00000303538.8	-	17	2337	c.1798C>T	c.(1798-1800)Cct>Tct	p.P600S		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	600					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	p.P600S(1)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GGTTGCTTAGGATTTGCAAGT	0.358000													3	7					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7494463	7494463	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:7494463G>A	ENST00000486284.1	+	6	1618	c.1344G>A	c.(1342-1344)ttG>ttA	p.L448L	GRM7_ENST00000403881.1_Silent_p.L448L|GRM7_ENST00000402647.2_Silent_p.L448L|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Silent_p.L448L|GRM7_ENST00000357716.4_Silent_p.L448L	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	448					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GCAAGAAGTTGCTGAAGTATA	0.438000													6	17					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150348569	150348569	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:150348569G>A	ENST00000218316.3	+	2	583	c.514G>A	c.(514-516)Gat>Aat	p.D172N		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	172					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CATCGAGTACGATCCTCGCAC	0.527000													37	49					0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62076610	62076610	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:62076610C>T	ENST00000354587.3	-	3	671	c.495G>A	c.(493-495)cgG>cgA	p.R165R	KCNQ2_ENST00000370226.1_Silent_p.R165R|KCNQ2_ENST00000360480.3_Silent_p.R165R|KCNQ2_ENST00000370221.1_Silent_p.R165R|KCNQ2_ENST00000344425.5_Silent_p.R165R|KCNQ2_ENST00000359689.1_Silent_p.R165R|KCNQ2_ENST00000370222.3_Silent_p.R165R|KCNQ2_ENST00000344462.3_Silent_p.R165R|KCNQ2_ENST00000357249.2_Silent_p.R165R|KCNQ2_ENST00000370224.1_Silent_p.R165R|KCNQ2_ENST00000430658.1_Silent_p.R165R|KCNQ2_ENST00000359125.2_Silent_p.R165R			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	165					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	AGAACGGTTTCCGGGCAAACT	0.647000													13	83					0	0	1	0	0
ZNF16	7564	broad.mit.edu	37	8	146157628	146157628	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:146157628G>A	ENST00000276816.4	-	4	731	c.545C>T	c.(544-546)cCa>cTa	p.P182L	ZNF16_ENST00000394909.2_Missense_Mutation_p.P182L	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CATGTCATATGGATGTGGCCT	0.507000													66	135					0	0	1	0	0
C10orf128	170371	broad.mit.edu	37	10	50375042	50375042	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:50375042G>A	ENST00000374148.1	-	3	164	c.110C>T	c.(109-111)gCc>gTc	p.A37V	C10orf128_ENST00000470884.1_5'UTR|C10orf128_ENST00000374153.2_Missense_Mutation_p.A37V|C10orf128_ENST00000374151.3_Missense_Mutation_p.A37V|C10orf128_ENST00000474718.1_Missense_Mutation_p.A37V			Q5T292	CJ128_HUMAN	chromosome 10 open reading frame 128	37						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3						CCCGATGAGGGCGTACTTGAA	0.542000													14	42					0	0	1	0	0
GIF	2694	broad.mit.edu	37	11	59599192	59599192	+	Missense_Mutation	SNP	G	G	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:59599192G>C	ENST00000541311.1	-	8	1310	c.1076C>G	c.(1075-1077)aCa>aGa	p.T359R	GIF_ENST00000257248.2_Missense_Mutation_p.T384R			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	384					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						CTGCCAGTATGTCTTGTGATT	0.363000													19	61					0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200880630	200880630	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:200880630C>T	ENST00000367342.4	+	9	1464	c.1264C>T	c.(1264-1266)Ccc>Tcc	p.P422S	C1orf106_ENST00000413687.2_Missense_Mutation_p.P337S	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	422										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CAGCGCCTTTCCCCGCCGCCG	0.662000													92	494					0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565265	58565265	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:58565265G>A	ENST00000282326.1	+	6	1320	c.1073G>A	c.(1072-1074)cGg>cAg	p.R358Q		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	358					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AAGGGCCCCCGGGAGTCCGTC	0.662000													8	23					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160205548	160205548	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:160205548C>T	ENST00000392783.2	-	29	5602	c.5107G>A	c.(5107-5109)Gat>Aat	p.D1703N	BAZ2B_ENST00000392782.1_Missense_Mutation_p.D1667N|BAZ2B_ENST00000343439.5_Missense_Mutation_p.D1603N|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D1669N	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1703					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTAGGAAAATCTACTGGTTTT	0.388000													12	70					0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50475129	50475129	+	RNA	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:50475129C>T	ENST00000602139.1	+	0	1075									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						ACGGCACATCCCTCCGGGTCC	0.657000													16	38					0	0	1	0	0
CAPN15	6650	broad.mit.edu	37	16	597451	597451	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:597451C>T	ENST00000219611.2	+	4	976	c.613C>T	c.(613-615)Ccc>Tcc	p.P205S	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15																		ACCTGGCCTCCCCGGGGAAGG	0.741000													5	13					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1957788	1957788	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:1957788C>T	ENST00000382895.3	+	17	3185	c.2754C>T	c.(2752-2754)ttC>ttT	p.F918F	WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Silent_p.F266F|WHSC1_ENST00000382891.5_Silent_p.F918F|WHSC1_ENST00000382892.2_Silent_p.F918F|WHSC1_ENST00000508803.1_Silent_p.F918F	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	918	PWWP 2.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.F918F(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TTGGAGAATTCCCTGTGTTTT	0.473000			T	IGH@	MM								75	290					0	0	1	0	0
ZNF112	7665	broad.mit.edu	37	19	44833712	44833712	+	Missense_Mutation	SNP	G	G	A	rs144019017		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:44833712G>A	ENST00000354340.4	-	4	649	c.598C>T	c.(598-600)Cat>Tat	p.H200Y	ZNF112_ENST00000536500.1_Missense_Mutation_p.H223Y|ZNF112_ENST00000337401.4_Missense_Mutation_p.H206Y	NM_013380.3	NP_037512.3			zinc finger protein 112									p.H200Y(1)									TTACAGAAATGATTTTTCATG	0.393000													24	73					0	0	1	0	0
IGHV3-21	28444	broad.mit.edu	37	14	106691750	106691750	+	RNA	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:106691750C>T	ENST00000390607.2	-	0	352																											TTGGCGTTGTCTCTGGAGATG	0.517000													45	161					0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53186570	53186570	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:53186570C>T	ENST00000417996.2	-	4	1022	c.948G>A	c.(946-948)atG>atA	p.M316I	KRT3_ENST00000309505.3_Missense_Mutation_p.M316I	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	316	Coil 1B.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CCACCTTGTTCATATAGGCAC	0.458000													51	197					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270918	1270918	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:1270918C>T	ENST00000348261.5	+	35	7234	c.6986C>T	c.(6985-6987)cCc>cTc	p.P2329L	CACNA1H_ENST00000565831.1_Missense_Mutation_p.P2323L|CACNA1H_ENST00000358590.4_Missense_Mutation_p.P2323L	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2329					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CTCACAGTCCCCCAGTGTCCT	0.677000													29	72					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47303197	47303197	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:47303197C>T	ENST00000342922.4	+	8	1719	c.1362C>T	c.(1360-1362)atC>atT	p.I454I	MADD_ENST00000395336.3_Silent_p.I454I|MADD_ENST00000407859.3_Silent_p.I454I|MADD_ENST00000311027.5_Silent_p.I454I|MADD_ENST00000406482.1_Silent_p.I454I|MADD_ENST00000402799.1_Silent_p.I454I|MADD_ENST00000349238.3_Silent_p.I454I|MADD_ENST00000395344.3_Silent_p.I454I|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000402192.2_Silent_p.I454I	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	454					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GCCAGGAGATCCCCCTTCTCT	0.498000													17	33					0	0	1	0	0
ZNF101	94039	broad.mit.edu	37	19	19788737	19788737	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:19788737C>T	ENST00000592502.1	+	2	178	c.68C>T	c.(67-69)cCt>cTt	p.P23L	ZNF101_ENST00000444249.2_Missense_Mutation_p.P23L|ZNF101_ENST00000415784.2_5'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						TTGCTGAGTCCTTCCCAGAAG	0.522000													27	87					0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121942231	121942231	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:121942231C>T	ENST00000442488.2	-	4	1315	c.1248G>A	c.(1246-1248)aaG>aaA	p.K416K	FEZF1_ENST00000427185.2_Silent_p.K366K|FEZF1_ENST00000331178.4_Silent_p.K412K	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	416					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GGACATGCTTCTTGAGGTCAA	0.627000													39	183					0	0	1	0	0
ATG4D	84971	broad.mit.edu	37	19	10662728	10662728	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:10662728C>T	ENST00000309469.4	+	8	1226	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	ATG4D_ENST00000540862.1_Silent_p.F18F	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	351					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CAGATGACTTCCTGCTGTACC	0.642000													17	57					0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49621269	49621269	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:49621269G>A	ENST00000371571.4	-	3	1134	c.849C>T	c.(847-849)ttC>ttT	p.F283F	RP5-955M13.4_ENST00000424566.1_RNA|RP5-955M13.3_ENST00000506387.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	283						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCCGCAGGAGGAACTCCAGGG	0.642000													6	5					0	0	1	0	0
VPS28	51160	broad.mit.edu	37	8	145649348	145649348	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:145649348G>A	ENST00000377348.2	-	9	713	c.624C>T	c.(622-624)ccC>ccT	p.P208P	VPS28_ENST00000292510.4_Intron|VPS28_ENST00000526054.1_Intron|VPS28_ENST00000529182.1_Silent_p.P208P	NM_183057.1	NP_898880.1	Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	0	VPS28 C-terminal.				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			AGGGCCTCAGGGGCACTGCGG	0.706000													45	99					0	0	1	0	0
C17orf47	284083	broad.mit.edu	37	17	56620793	56620793	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:56620793G>A	ENST00000321691.3	-	1	936	c.755C>T	c.(754-756)cCt>cTt	p.P252L	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	252								p.P252L(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGACCGTAAGGACCTGTTTC	0.478000													20	144					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28233806	28233806	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:28233806C>T	ENST00000305242.5	-	11	1564	c.1472G>A	c.(1471-1473)aGa>aAa	p.R491K	ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000545014.1_Missense_Mutation_p.R16K|ARMC4_ENST00000537576.1_Missense_Mutation_p.R183K	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	491							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCCAACATCTCTGATGGCCAA	0.458000													21	68					0	0	1	0	0
DEFB128	245939	broad.mit.edu	37	20	168662	168662	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:168662C>T	ENST00000334391.4	-	2	204	c.147G>A	c.(145-147)ggG>ggA	p.G49G		NM_001037732.1	NP_001032821.1	Q7Z7B8	DB128_HUMAN	defensin, beta 128	49					defense response to bacterium	extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		all_cancers(10;0.00499)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			AACATAATTTCCCACTTAGAC	0.388000													76	145					0	0	1	0	0
LHX6	26468	broad.mit.edu	37	9	124971981	124971981	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:124971981C>T	ENST00000559895.1	-	6	1300	c.422G>A	c.(421-423)gGg>gAg	p.G141E	LHX6_ENST00000541397.2_Intron|LHX6_ENST00000340587.3_Intron|LHX6_ENST00000394319.4_Missense_Mutation_p.G357E|LHX6_ENST00000373755.2_Missense_Mutation_p.G328E|LHX6_ENST00000464484.2_Intron|LHX6_ENST00000482062.1_Missense_Mutation_p.G15E|LHX6_ENST00000373754.2_Intron	NM_001242335.1	NP_001229264.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	328	LIM zinc-binding 2.|Required for interaction with LBD1 (By similarity).				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						gtgcacctgcccgcactgtac	0.637000													14	38					0	0	1	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26883577	26883577	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:26883577C>T	ENST00000374168.2	+	13	1224	c.1070C>T	c.(1069-1071)tCc>tTc	p.S357F	RPS6KA1_ENST00000530003.1_Missense_Mutation_p.S341F|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.S265F|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.S265F|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.S346F|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.S366F	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	357	AGC-kinase C-terminal.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GAGTTCACGTCCCGCACACCC	0.577000													20	61					0	0	1	0	0
C12orf36	283422	broad.mit.edu	37	12	13526360	13526360	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:13526360C>T	ENST00000318426.2	-	3	412	c.195G>A	c.(193-195)ggG>ggA	p.G65G	C12orf36_ENST00000527705.2_Silent_p.G65G					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		ATTCCTCATTCCCAAATCTGT	0.458000													7	38					0	0	1	0	0
OR2A7	401427	broad.mit.edu	37	7	143956672	143956672	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:143956672G>A	ENST00000493325.1	-	1	143	c.50C>T	c.(49-51)cCc>cTc	p.P17L	ARHGEF35_ENST00000543357.1_Intron|RP4-798C17.6_ENST00000461843.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					TGGGCCAACGGGAAATCCCAG	0.498000													59	270					0	0	1	0	0
LCE2C	353140	broad.mit.edu	37	1	152648755	152648755	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:152648755C>T	ENST00000368783.1	+	2	319	c.264C>T	c.(262-264)agC>agT	p.S88S	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	88	Cys-rich.				keratinization					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCACCAGAGCCCCGACTGCT	0.672000													34	158					0	0	1	0	0
ALPI	248	broad.mit.edu	37	2	233323624	233323624	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:233323624G>A	ENST00000295463.3	+	11	1432	c.1355G>A	c.(1354-1356)gGa>gAa	p.G452E		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	452					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GAGACCCACGGAGGCGAAGAC	0.692000													6	24					0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71197007	71197007	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:71197007C>T	ENST00000260382.5	+	5	673	c.413C>T	c.(412-414)tCg>tTg	p.S138L	LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.S128L|LRRC49_ENST00000443425.2_Missense_Mutation_p.S94L|LRRC49_ENST00000560369.1_Missense_Mutation_p.S143L	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	138						cytoplasm|microtubule		p.S138L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AAGTTAATATCGTTGGATTTA	0.358000													23	108					0	0	1	0	0
MAN2C1	4123	broad.mit.edu	37	15	75651148	75651148	+	Splice_Site	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:75651148C>T	ENST00000565683.1	-	19	2205	c.2192_splice	c.e19-1	p.E732_splice	MAN2C1_ENST00000563622.1_Splice_Site_p.E616_splice|MAN2C1_ENST00000267978.5_Splice_Site_p.E715_splice|MAN2C1_ENST00000569482.1_Splice_Site_p.E715_splice	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	715					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GCAATGGCCTCCCTGGAAGGA	0.572000													4	13					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10433055	10433055	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:10433055C>T	ENST00000245503.5	-	24	3327	c.2943G>A	c.(2941-2943)gtG>gtA	p.V981V	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.V981V|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	981					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGAGGTTTTTCACCTACAAAG	0.458000													61	178					0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784272	151784272	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:151784272G>A	ENST00000255262.3	-	1	568	c.403C>T	c.(403-405)Ctc>Ttc	p.L135F	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	135					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GTGATGCTGAGGATGGAGGCG	0.632000													29	77					0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60183349	60183349	+	Missense_Mutation	SNP	T	T	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:60183349T>A	ENST00000300187.6	+	5	1185	c.908T>A	c.(907-909)gTt>gAt	p.V303D	MS4A14_ENST00000395005.2_Missense_Mutation_p.V286D|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531787.1_Missense_Mutation_p.V191D|MS4A14_ENST00000531783.1_Missense_Mutation_p.V336D	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	303						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TCACTCCAAGTTTTTCCATCC	0.423000													13	55					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9457827	9457827	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:9457827G>A	ENST00000379719.3	+	20	2324	c.2182G>A	c.(2182-2184)Gga>Aga	p.G728R		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	728					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GGTTCTTACAGGAGTTGCAGG	0.413000													4	24					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21101786	21101786	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:21101786C>T	ENST00000377122.4	-	24	2826	c.2430G>A	c.(2428-2430)agG>agA	p.R810R	NEBL_ENST00000417816.2_Silent_p.R147R|NEBL_ENST00000377159.4_Silent_p.R113R	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	810					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GGGTGTTCTTCCTCACTCTCT	0.483000													10	45					0	0	1	0	0
ZC2HC1A	51101	broad.mit.edu	37	8	79629650	79629650	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:79629650C>T	ENST00000263849.4	+	9	1002	c.900C>T	c.(898-900)tgC>tgT	p.C300C		NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN	zinc finger, C2HC-type containing 1A	300																	CAAAATTCTGCCATGAGTGTG	0.373000													36	164					0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39723964	39723964	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:39723964C>T	ENST00000246662.4	-	7	1498	c.1433G>A	c.(1432-1434)cGa>cAa	p.R478Q	KRT9_ENST00000588431.1_Missense_Mutation_p.R245Q	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	478	Tail.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				acttcctcctcGACCTCCAAG	0.512000													19	40					0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30922585	30922585	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:30922585C>T	ENST00000265299.6	+	17	2279	c.2202C>T	c.(2200-2202)ccC>ccT	p.P734P	INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000434909.2_Silent_p.P80P|AQP1_ENST00000509504.1_Silent_p.P197P	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	734										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTGTCCCACCCCTCGAGCTCT	0.582000													59	116					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169511190	169511190	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:169511190C>T	ENST00000367796.3	-	13	3354	c.3153G>A	c.(3151-3153)agG>agA	p.R1051R	F5_ENST00000367797.3_Silent_p.R1046R			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1046	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GGTGAAAGGTCCTCGGAGATA	0.403000													56	340					0	0	1	0	0
SPRED3	399473	broad.mit.edu	37	19	38882864	38882864	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:38882864C>T	ENST00000587013.1	+	3	569	c.491C>T	c.(490-492)cCc>cTc	p.P164L	SPRED3_ENST00000586301.1_Missense_Mutation_p.P120L|SPRED3_ENST00000338502.4_Missense_Mutation_p.P120L|SPRED3_ENST00000587564.2_3'UTR			Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	120					multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcc	0.647000													4	16					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43772124	43772124	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:43772124G>A	ENST00000244293.7	-	2	308	c.242C>T	c.(241-243)tCg>tTg	p.S81L	PSG9_ENST00000270077.3_Missense_Mutation_p.S81L|PSG9_ENST00000443718.3_Missense_Mutation_p.S81L|PSG9_ENST00000291752.5_Missense_Mutation_p.S81L|PSG9_ENST00000596730.1_Missense_Mutation_p.S81L|PSG9_ENST00000593948.1_Missense_Mutation_p.S81L|PSG9_ENST00000418820.2_Missense_Mutation_p.S81L			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	81	Ig-like V-type.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AACTATATACGATATAATGTA	0.428000													62	184					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92085636	92085636	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:92085636G>A	ENST00000298047.6	+	1	375	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	FAT3_ENST00000409404.2_Missense_Mutation_p.E120K|FAT3_ENST00000541502.1_Missense_Mutation_p.E120K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	120	Cadherin 1.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTAAATAGGGAAATCCAGGA	0.358000										TCGA Ovarian(4;0.039)			11	28					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103681	53103681	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:53103681C>T	ENST00000408890.4	+	1	333	c.317C>T	c.(316-318)aCc>aTc	p.T106I		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	106								p.T106N(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCGGGGAGACCGCTCTGGGG	0.711000													18	34					0	0	1	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29844720	29844720	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:29844720G>T	ENST00000325874.8	+	4	617	c.388G>T	c.(388-390)Gaa>Taa	p.E130*	RAB11FIP4_ENST00000394744.2_Nonsense_Mutation_p.E28*	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	130	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CATCCCCAGGGAACCCGGCTT	0.617000													3	9					0.184627	0.184737	1	1	0
RANBP2	5903	broad.mit.edu	37	2	109398752	109398752	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:109398752C>T	ENST00000283195.6	+	27	9055	c.8929C>T	c.(8929-8931)Cag>Tag	p.Q2977*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2977	RanBD1 4.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAGAAGAGACCAGGTTTTTAA	0.383000													19	57					0	0	1	0	0
IP6K2	51447	broad.mit.edu	37	3	48728832	48728832	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:48728832G>A	ENST00000328631.5	-	4	735	c.512C>T	c.(511-513)tCc>tTc	p.S171F		NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	171					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						TTTAAGCTGGGAACTTATATT	0.388000													26	83					0	0	1	0	0
SFRP1	6422	broad.mit.edu	37	8	41122983	41122983	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:41122983C>T	ENST00000220772.3	-	3	985	c.648G>A	c.(646-648)gtG>gtA	p.V216V	SFRP1_ENST00000379845.3_Silent_p.V80V	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	216	NTR.				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			TTTCTTTTTTCACTTCTTTTA	0.418000													7	19					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	379850	379850	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:379850C>T	ENST00000432829.2	+	21	2632	c.2316C>T	c.(2314-2316)gaC>gaT	p.D772D	DOCK8_ENST00000382329.1_Silent_p.D307D|DOCK8_ENST00000382331.1_Silent_p.D142D|DOCK8_ENST00000453981.1_Silent_p.D840D|DOCK8_ENST00000469391.1_Silent_p.D772D	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	840					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGAGCAAGGACCAGCATGGGA	0.562000													11	40					0	0	1	0	0
NNT	23530	broad.mit.edu	37	5	43628323	43628323	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:43628323C>T	ENST00000264663.5	+	7	1019	c.798C>T	c.(796-798)ttC>ttT	p.F266F	NNT_ENST00000344920.4_Silent_p.F266F|NNT_ENST00000512996.2_Silent_p.F135F	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	266					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TGGAACAGTTCAAGTCTCTTG	0.428000													26	98					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418443	105418443	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:105418443C>T	ENST00000333244.5	-	7	3464	c.3345G>A	c.(3343-3345)gcG>gcA	p.A1115A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1115						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGTGACTTCCGCCTTGGGGC	0.652000													74	245					0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40591077	40591077	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:40591077G>A	ENST00000260402.3	-	9	1021	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L	PLCB2_ENST00000456256.2_Silent_p.L258L|PLCB2_ENST00000557821.1_Silent_p.L258L	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	258					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGCGGGAACAGCAGGGAGTTA	0.567000													21	89					0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513678	99513678	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:99513678G>A	ENST00000261037.3	+	5	1313	c.933G>A	c.(931-933)ggG>ggA	p.G311G	COL8A1_ENST00000273342.4_Silent_p.G311G	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	311	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GACCTCCTGGGATACCCGGAA	0.657000													17	49					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35536302	35536302	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:35536302G>A	ENST00000353139.5	-	41	5459	c.4978C>T	c.(4978-4980)Cca>Tca	p.P1660S	ACACA_ENST00000360679.3_Missense_Mutation_p.P1565S|ACACA_ENST00000335166.5_Missense_Mutation_p.P1545S|ACACA_ENST00000394406.2_Missense_Mutation_p.P1623S	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1623					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGGGGAGATGGAAGAAATGCT	0.438000													15	55					0	0	1	0	0
SULT6B1	391365	broad.mit.edu	37	2	37415691	37415691	+	Splice_Site	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:37415691C>T	ENST00000407963.1	-	2	83		c.e2-1		SULT6B1_ENST00000379149.2_Silent_p.Q31Q|SULT6B1_ENST00000535679.1_Silent_p.Q31Q			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1							cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				AAGGAATCCCCTGATAGGTGA	0.418000													24	59					0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56702267	56702267	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:56702267C>T	ENST00000586855.2	-	4	991	c.678G>A	c.(676-678)aaG>aaA	p.K226K	ZSCAN5B_ENST00000358992.3_Silent_p.K226K			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	226					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CCCTGTTTTCCTTCAGATCCT	0.512000													20	55					0	0	1	0	0
HARS	3035	broad.mit.edu	37	5	140058709	140058709	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140058709G>A	ENST00000504366.1	-	4	2012	c.193C>T	c.(193-195)Cct>Tct	p.P65S	HARS_ENST00000504156.1_Missense_Mutation_p.P134S|HARS_ENST00000307633.3_Missense_Mutation_p.P94S|HARS_ENST00000448240.1_5'UTR|HARS_ENST00000457527.2_Missense_Mutation_p.P134S|HARS_ENST00000415192.2_Intron|HARS_ENST00000438307.2_Missense_Mutation_p.P94S|HARS_ENST00000431330.2_Intron			P12081	SYHC_HUMAN	histidyl-tRNA synthetase	134					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CGAGCAAAAGGAACCTGATGA	0.478000													22	94					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	RNA	SNP	C	C	T	rs367060		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085																											CTCAGCCTTCCGCCGGGCCAG	0.672000													5	28					0	0	1	0	0
GPR52	9293	broad.mit.edu	37	1	174417981	174417981	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:174417981C>T	ENST00000367685.2	+	1	770	c.732C>T	c.(730-732)ttC>ttT	p.F244F	RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000367689.3_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	244						integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						GAGCCCGATTCCCTAGTCATG	0.448000													24	152					0	0	1	0	0
GCDH	2639	broad.mit.edu	37	19	13004358	13004358	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:13004358G>A	ENST00000222214.5	+	6	607	c.396G>A	c.(394-396)cgG>cgA	p.R132R	GCDH_ENST00000457854.1_Silent_p.R132R|GCDH_ENST00000422947.2_Silent_p.R88R|GCDH_ENST00000591470.1_Silent_p.R132R			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	132					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						AGCTGGAGCGGGTGGACAGTG	0.592000													14	79					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27301771	27301771	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:27301771C>T	ENST00000397501.1	+	28	3005	c.2197C>T	c.(2197-2199)Cca>Tca	p.P733S	PTK2B_ENST00000346049.5_Missense_Mutation_p.P733S|PTK2B_ENST00000338238.4_Missense_Mutation_p.P733S|PTK2B_ENST00000420218.2_Missense_Mutation_p.P733S|PTK2B_ENST00000397497.4_Missense_Mutation_p.P479S|PTK2B_ENST00000517339.1_Missense_Mutation_p.P733S|PTK2B_ENST00000544172.1_Missense_Mutation_p.P733S	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	733	Pro-rich.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CCTCCTGGCTCCAAAGCTGCA	0.537000													11	30					0	0	1	0	0
KIAA1841	84542	broad.mit.edu	37	2	61331072	61331072	+	Silent	SNP	T	T	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:61331072T>C	ENST00000402291.1	+	13	1691	c.1450T>C	c.(1450-1452)Ttg>Ctg	p.L484L	KIAA1841_ENST00000295031.5_Silent_p.L484L|KIAA1841_ENST00000453873.1_Silent_p.L484L|KIAA1841_ENST00000356719.2_Silent_p.L484L	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	484										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			TGCTAGAATGTTGGACGATTT	0.448000													10	39					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227924234	227924234	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:227924234C>T	ENST00000396625.3	-	28	2477	c.2270G>A	c.(2269-2271)gGa>gAa	p.G757E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G757E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	757	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCCGGGATTCCTTTCTGACC	0.607000													28	111					0	0	1	0	0
LCTL	197021	broad.mit.edu	37	15	66840939	66840939	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:66840939G>A	ENST00000341509.5	-	13	1724	c.1593C>T	c.(1591-1593)ccC>ccT	p.P531P	LCTL_ENST00000537670.1_Silent_p.P358P|ZWILCH_ENST00000446801.2_3'UTR|ZWILCH_ENST00000307897.5_3'UTR	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	531					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GACTTAGCAAGGGCTCTGAAA	0.438000													15	49					0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142880781	142880781	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:142880781G>A	ENST00000446620.1	+	1	270	c.270G>A	c.(268-270)atG>atA	p.M90I		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	90					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					AAAGCCTCATGATGTTAGAAA	0.363000													37	171					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559230	140559230	+	Missense_Mutation	SNP	T	T	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140559230T>A	ENST00000239444.2	+	1	1860	c.1615T>A	c.(1615-1617)Tcc>Acc	p.S539T		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		539	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGACCGCGGCTCCCCGGCTTT	0.672000													31	352					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875377	247875377	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:247875377C>T	ENST00000302084.2	-	1	728	c.681G>A	c.(679-681)agG>agA	p.R227R	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R227S(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CAGAGGGGATCCTGAGGATGG	0.527000													89	81					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107022168	107022168	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:107022168G>A	ENST00000369701.3	+	26	3750	c.3523G>A	c.(3523-3525)Gaa>Aaa	p.E1175K		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1175						integral to membrane	neuropeptide receptor activity	p.E1175K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GAGCCAAAGTGAAAACGCCCC	0.507000													32	35					0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43932918	43932918	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:43932918G>A	ENST00000537548.1	-	4	837	c.593C>T	c.(592-594)tCc>tTc	p.S198F	MATN4_ENST00000372754.1_Missense_Mutation_p.S198F|MATN4_ENST00000353917.5_Missense_Mutation_p.S198F|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000342716.4_Missense_Mutation_p.S198F|MATN4_ENST00000360607.5_Missense_Mutation_p.S198F|MATN4_ENST00000372756.1_Missense_Mutation_p.S198F			O95460	MATN4_HUMAN	matrilin 4	198	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GAGGTCGAAGGACTCTACGAG	0.617000													17	72					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25563045	25563045	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:25563045G>A	ENST00000269141.3	-	14	2635	c.2212C>T	c.(2212-2214)Ctt>Ttt	p.L738F	CDH2_ENST00000399380.3_Missense_Mutation_p.L707F	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	738					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATCAGCACAAGGACTAGGTAG	0.318000													17	62					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50957332	50957332	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:50957332G>A	ENST00000357701.5	+	17	1856	c.1805G>A	c.(1804-1806)aGc>aAc	p.S602N		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	602	Ig-like C2-type 5.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GACTGCAGCAGCTTTGTGATT	0.612000													6	19					0	0	1	0	0
ADRBK2	157	broad.mit.edu	37	22	26063727	26063727	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:26063727G>A	ENST00000324198.5	+	6	655	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	155	N-terminal.|RGS.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	AGAAATTTGTGAAAGCCTTCG	0.328000													4	50					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183721337	183721337	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:183721337G>A	ENST00000511685.1	+	28	8056	c.7933G>A	c.(7933-7935)Gag>Aag	p.E2645K	TENM3_ENST00000406950.2_Missense_Mutation_p.E2645K					teneurin transmembrane protein 3																		CGACGGCGAGGAGGGCGCGCG	0.736000													4	16					0	0	1	0	0
SRCIN1	80725	broad.mit.edu	37	17	36717919	36717919	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:36717919G>A	ENST00000264659.7	-	7	1704	c.1480C>T	c.(1480-1482)Ccc>Tcc	p.P494S	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.P528S	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	366					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CCCGAGTAGGGGCTGTGCGGT	0.721000													5	10					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17599903	17599903	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:17599903G>A	ENST00000375460.3	+	10	1156	c.1116G>A	c.(1114-1116)agG>agA	p.R372R		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	372					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ACTCCCCAAGGAATGGGGAAC	0.612000													6	25					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256039	140256039	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140256039C>T	ENST00000398631.2	+	1	982	c.982C>T	c.(982-984)Cct>Tct	p.P328S	PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAAGGGATTCCTTCCATGGC	0.423000													19	62					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14363864	14363864	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:14363864G>A	ENST00000344204.4	+	14	2439	c.2415G>A	c.(2413-2415)tgG>tgA	p.W805*	TRIO_ENST00000537187.1_Nonsense_Mutation_p.W805*|TRIO_ENST00000509967.2_Nonsense_Mutation_p.W756*	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	805					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCGAGTCTTGGAATGATGAGC	0.438000													16	55					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167096871	167096871	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:167096871G>A	ENST00000361200.2	+	6	2669	c.2503G>A	c.(2503-2505)Gaa>Aaa	p.E835K	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.E835K|DUSP27_ENST00000443333.1_Missense_Mutation_p.E835K			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	835					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGACCTAAAGGAACTTGGCCG	0.522000													40	64					0	0	1	0	0
E2F2	1870	broad.mit.edu	37	1	23848336	23848336	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:23848336G>A	ENST00000361729.2	-	3	997	c.571C>T	c.(571-573)Cag>Tag	p.Q191*		NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	191					G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		CACACCCACTGGATGTTGTTC	0.612000													19	43					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62604624	62604624	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:62604624G>A	ENST00000281156.4	-	6	1004	c.726C>T	c.(724-726)gtC>gtT	p.V242V		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	242	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GAGGGGTAGGGACACCTCTTG	0.587000													16	24					0	0	1	0	0
GPR78	27201	broad.mit.edu	37	4	8584303	8584303	+	Silent	SNP	C	C	T	rs35460303	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:8584303C>T	ENST00000382487.4	+	2	1131	c.714C>T	c.(712-714)cgC>cgT	p.R238R	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	238					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						GCCGCCACCGCGCCACCAGGA	0.627000													14	104					0	0	1	0	0
FRS3	10817	broad.mit.edu	37	6	41740650	41740650	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:41740650G>A	ENST00000373018.3	-	5	552	c.301C>T	c.(301-303)Ctt>Ttt	p.L101F	FRS3_ENST00000259748.2_Missense_Mutation_p.L101F	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	101	IRS-type PTB.				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGATCCTGAAGGAGGTTGAAG	0.522000													15	44					0	0	1	0	0
MIP	4284	broad.mit.edu	37	12	56847477	56847477	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:56847477G>A	ENST00000257979.4	-	2	451	c.423C>T	c.(421-423)ttC>ttT	p.F141F	MIP_ENST00000555551.1_5'UTR	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	141					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						TGCAGAGCACGAACTGGAGCG	0.607000													13	36					0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043849	20043849	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:20043849G>A	ENST00000570682.1	-	2	570	c.270C>T	c.(268-270)ttC>ttT	p.F90F		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	90						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TGTTCAAGATGAAATCTTCCA	0.463000													11	42					0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217651	150217651	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:150217651G>A	ENST00000313543.4	+	2	746	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	197							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGTGCAACGAAGGGGCTTA	0.443000													51	33					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326817	152326817	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:152326817C>T	ENST00000388718.5	-	3	3517	c.3445G>A	c.(3445-3447)Ggt>Agt	p.G1149S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1149	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGACTGACCTGATCTGTAC	0.517000													168	177					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169623541	169623541	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:169623541C>T	ENST00000366787.3	-	19	3052	c.2803G>A	c.(2803-2805)Gat>Aat	p.D935N	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	935					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TTGTCAAAATCATCTTTACAA	0.418000													17	43					0	0	1	0	0
SLC25A28	81894	broad.mit.edu	37	10	101370931	101370931	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:101370931C>T	ENST00000370495.4	-	4	798	c.770G>A	c.(769-771)aGa>aAa	p.R257K	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	257					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		GTTGTACCGTCTCTGGGGGTT	0.542000													18	63					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10622577	10622577	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:10622577C>T	ENST00000547195.1	-	14	2132	c.1632G>A	c.(1630-1632)gtG>gtA	p.V544V	MRVI1_ENST00000558540.1_Silent_p.V320V|MRVI1_ENST00000424001.1_Silent_p.V320V|MRVI1_ENST00000421747.1_Silent_p.V626V|MRVI1_ENST00000552103.1_Silent_p.V544V|MRVI1_ENST00000534266.2_Silent_p.V320V|MRVI1_ENST00000531107.1_Silent_p.V627V|MRVI1_ENST00000527509.2_Silent_p.V544V|MRVI1_ENST00000541483.1_Silent_p.V429V|MRVI1_ENST00000545852.1_Silent_p.V320V|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000436272.1_Silent_p.V608V|MRVI1_ENST00000423302.2_Silent_p.V635V	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	608	Interaction with ITPR1 (By similarity).				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		ACTGCATCATCACTTCCGTTG	0.493000													44	204					0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41585813	41585813	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:41585813C>T	ENST00000262415.3	+	16	2499	c.2427C>T	c.(2425-2427)atC>atT	p.I809I	DHX8_ENST00000540306.1_Silent_p.I809I	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	809	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AGTTAATTATCCTCCCAGTGT	0.473000													25	75					0	0	1	0	0
WFDC13	164237	broad.mit.edu	37	20	44333151	44333151	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:44333151G>A	ENST00000305479.2	+	2	265	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	WFDC10B_ENST00000330523.5_5'UTR|WFDC10B_ENST00000335769.2_Missense_Mutation_p.P42S	NM_172005.1	NP_742002.1	Q8IUB5	WFD13_HUMAN	WAP four-disulfide core domain 13	53						extracellular region	peptidase inhibitor activity	p.E53K(1)		skin(1)|upper_aerodigestive_tract(1)	2		Myeloproliferative disorder(115;0.0122)				TACAATGCAGGAAGATTGCGA	0.438000													43	77					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181686297	181686297	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:181686297G>A	ENST00000526775.1	+	11	1549	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	CACNA1E_ENST00000357570.5_Missense_Mutation_p.E413K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E69K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E462K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E462K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E413K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E462K	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	462					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCGGCACAAGGAAAGGCTTCT	0.512000													29	156					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54915006	54915006	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:54915006G>A	ENST00000293373.6	+	18	1941	c.1862G>A	c.(1861-1863)cGa>cAa	p.R621Q	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R571Q	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	621					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GCTGAGCAGCGAAACCTGAGC	0.552000													17	47					0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57006231	57006231	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:57006231C>T	ENST00000370706.4	+	8	1078	c.834C>T	c.(832-834)ttC>ttT	p.F278F	RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000491832.2_Silent_p.F278F|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Silent_p.F278F|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AGAATCATTTCCATCAGAGTT	0.348000													10	15					0	0	1	0	0
OLFML3	56944	broad.mit.edu	37	1	114523781	114523781	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:114523781C>T	ENST00000369551.1	+	4	839	c.551C>T	c.(550-552)cCc>cTc	p.P184L	OLFML3_ENST00000320334.4_Missense_Mutation_p.P204L|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Missense_Mutation_p.P184L			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	204	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCCGGGTGCCCTTCCCCTGG	0.572000													14	33					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94476464	94476464	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:94476464G>A	ENST00000370225.3	-	40	5692	c.5606C>T	c.(5605-5607)cCg>cTg	p.P1869L	ABCA4_ENST00000536513.1_Missense_Mutation_p.P139L|ABCA4_ENST00000535881.1_5'UTR|ABCA4_ENST00000465352.1_5'UTR	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1869					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCAGTGGAACGGATTTGCAGA	0.592000													12	52					0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130331474	130331474	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:130331474G>A	ENST00000299164.2	+	2	1048	c.1048G>A	c.(1048-1050)Gac>Aac	p.D350N		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	350	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TGTCATTGAGGACGATGGGCT	0.612000													14	32					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9453992	9453992	+	Silent	SNP	C	C	T	rs6140947		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:9453992C>T	ENST00000378501.2	+	34	3454	c.3439C>T	c.(3439-3441)Cta>Tta	p.L1147L	PLCB4_ENST00000378473.3_Silent_p.L1159L|PLCB4_ENST00000414679.2_Silent_p.L1159L|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Silent_p.L1147L|PLCB4_ENST00000278655.4_Silent_p.L1147L|PLCB4_ENST00000378493.1_Silent_p.L1147L	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1147					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TCTAGAATTCCTAGAGAAACA	0.388000													27	53					0	0	1	0	0
ZNF93	81931	broad.mit.edu	37	19	20044530	20044530	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:20044530C>T	ENST00000343769.5	+	4	794	c.766C>T	c.(766-768)Ccc>Tcc	p.P256S	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	256						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TGGAAAGAAACCCTACAAGTG	0.368000													11	42					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69046463	69046463	+	Silent	SNP	G	G	A	rs140035238	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:69046463G>A	ENST00000288368.4	+	32	4213	c.3936G>A	c.(3934-3936)gcG>gcA	p.A1312A		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1312					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ACCAGATAGCGAATGCAGGTG	0.483000													12	65					0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101606722	101606722	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:101606722C>T	ENST00000335681.5	+	18	2117	c.1832C>T	c.(1831-1833)cCa>cTa	p.P611L	NPAS2_ENST00000542504.1_Missense_Mutation_p.P676L	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	611					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCCAGGGTCCAAAGCCAATG	0.567000													22	97					0	0	1	0	0
COX10	1352	broad.mit.edu	37	17	13980118	13980118	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:13980118C>T	ENST00000261643.3	+	3	321	c.244C>T	c.(244-246)Cct>Tct	p.P82S	COX10_ENST00000537334.1_Intron|COX10_ENST00000536205.1_5'UTR|COX10_ENST00000429152.2_Missense_Mutation_p.P82S	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	82					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		AGTAGCATCTCCTTTCCTTGA	0.423000													11	46					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603982	140603982	+	Missense_Mutation	SNP	A	A	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140603982A>G	ENST00000239449.4	+	1	905	c.905A>G	c.(904-906)aAt>aGt	p.N302S	PCDHB14_ENST00000515856.2_Missense_Mutation_p.N149S	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		302	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGGAAGTTAATTTGAGATCA	0.363000													13	57					0	0	1	0	0
AQP2	359	broad.mit.edu	37	12	50348049	50348049	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:50348049G>A	ENST00000199280.3	+	2	557	c.472G>A	c.(472-474)Ggc>Agc	p.G158S	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	158					cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						AGAGAACCCGGGCACCCCTGC	0.647000													10	20					0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43571423	43571423	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:43571423C>T	ENST00000452443.2	-	11	1735	c.1731G>A	c.(1729-1731)acG>acA	p.T577T		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	577					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GCTTTTCGTCCGTTAGCTTGT	0.527000													9	28					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579028	82579028	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:82579028G>A	ENST00000423517.2	-	6	11213	c.10876C>T	c.(10876-10878)Ccc>Tcc	p.P3626S	PCLO_ENST00000437081.1_Missense_Mutation_p.P346S|PCLO_ENST00000333891.8_Missense_Mutation_p.P3626S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3557					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTGAGATGGGTGAGTAAAGG	0.483000													58	110					0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921301	247921301	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:247921301C>T	ENST00000408896.2	-	1	681	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGCACAGGTTCATTCTGGCGG	0.493000													16	78					0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50158053	50158053	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:50158053C>T	ENST00000360565.3	+	9	3668	c.3544C>T	c.(3544-3546)Ccc>Tcc	p.P1182S		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1182					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCCCCCCACCCCCACCGGGCT	0.692000													10	49					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52554222	52554222	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:52554222C>T	ENST00000321725.6	+	52	5491	c.5415C>T	c.(5413-5415)gcC>gcT	p.A1805A		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1805	FAS1 6.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TTGCTCAGGCCTTGGCATCTG	0.612000													17	76					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74274546	74274546	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:74274546C>T	ENST00000409262.3	+	1	1097	c.1097C>T	c.(1096-1098)cCg>cTg	p.P366L		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	366							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCCCCGGCCCCGGCCCCATCC	0.662000													13	23					0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8809028	8809028	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:8809028G>A	ENST00000324436.3	-	1	144	c.24C>T	c.(22-24)tcC>tcT	p.S8S		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	8						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GGGATTCCGAGGACTTGGGGC	0.667000													39	139					0	0	1	0	0
SEPT8	23176	broad.mit.edu	37	5	132101139	132101139	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:132101139G>A	ENST00000296873.7	-	2	396	c.113C>T	c.(112-114)tCg>tTg	p.S38L	SEPT8_ENST00000458488.2_Missense_Mutation_p.S38L|SEPT8_ENST00000448933.1_5'UTR|SEPT8_ENST00000378699.2_5'UTR|SEPT8_ENST00000378706.1_Missense_Mutation_p.S38L|SEPT8_ENST00000378719.2_Missense_Mutation_p.S38L|SEPT8_ENST00000378721.4_Missense_Mutation_p.S38L|SEPT8_ENST00000378701.1_Missense_Mutation_p.S38L	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	septin 8	38					cell cycle	septin complex	GTP binding|protein binding	p.S38L(1)	SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGAGTGACCGACTTGCTGAC	0.617000													46	136					0	0	1	0	0
SYNJ2BP	55333	broad.mit.edu	37	14	70839802	70839802	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:70839802G>A	ENST00000256366.4	-	4	425	c.344C>T	c.(343-345)cCa>cTa	p.P115L	RP11-718G2.3_ENST00000555276.1_RNA|SYNJ2BP_ENST00000554216.1_5'UTR	NM_018373.2	NP_060843.2			synaptojanin 2 binding protein											central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		AATACCACTTGGGTCCCCTTC	0.458000													25	54					0	0	1	0	0
MYL2	4633	broad.mit.edu	37	12	111351114	111351114	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:111351114C>T	ENST00000228841.8	-	5	336	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	MYL2_ENST00000548438.1_Missense_Mutation_p.E83K	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	97	EF-hand 2.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						AGAATGGTTTCCTCAGGGTCC	0.587000													13	56					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33560226	33560226	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:33560226C>T	ENST00000228567.3	-	3	871	c.575G>A	c.(574-576)gGc>gAc	p.G192D	SYT10_ENST00000535526.1_Missense_Mutation_p.G11D	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	192						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					AGGTTCTGTGCCCATGCTAAA	0.453000													15	96					0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150722484	150722484	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:150722484G>A	ENST00000335244.4	-	4	534	c.405C>T	c.(403-405)ccC>ccT	p.P135P	SLC36A2_ENST00000521967.1_Silent_p.P135P	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	135					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCAGGCGTTGGGGTTGGCTT	0.522000													10	44					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211460236	211460236	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:211460236C>T	ENST00000233072.5	+	13	1485	c.1289C>T	c.(1288-1290)tCa>tTa	p.S430L	CPS1_ENST00000451903.2_5'UTR|CPS1_ENST00000430249.2_Missense_Mutation_p.S436L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	430					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		ATTCTAGGATCAGGAGGTCTG	0.378000													30	92					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067623	9067623	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:9067623G>A	ENST00000397910.4	-	3	20026	c.19823C>T	c.(19822-19824)tCg>tTg	p.S6608L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6610	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGGACAGACGAATAAGATTC	0.443000													54	157					0	0	1	0	0
HLA-DPB1	3115	broad.mit.edu	37	6	33053608	33053608	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:33053608C>T	ENST00000418931.2	+	4	815	c.699C>T	c.(697-699)ttC>ttT	p.F233F		NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	233					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CTGGGGGCTTCGTGCTGGGGC	0.582000													16	81					0	0	1	0	0
SUN1	23353	broad.mit.edu	37	7	893141	893141	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:893141C>T	ENST00000456758.2	+	16	1716	c.1716C>T	c.(1714-1716)ctC>ctT	p.L572L	SUN1_ENST00000401592.1_Silent_p.L383L|SUN1_ENST00000405266.1_Silent_p.L420L|SUN1_ENST00000389574.3_Silent_p.L300L|SUN1_ENST00000452783.2_Silent_p.L280L|SUN1_ENST00000425407.2_Silent_p.L300L|SUN1_ENST00000413514.2_Silent_p.L192L			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	410					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTGAGAATCTCCGAGAGCTGA	0.612000													46	65					0	0	1	0	0
INMT	11185	broad.mit.edu	37	7	30795099	30795099	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:30795099G>A	ENST00000013222.5	+	3	440	c.424G>A	c.(424-426)Gat>Aat	p.D142N	INMT_ENST00000409539.1_Missense_Mutation_p.D141N|INMT_ENST00000484180.1_3'UTR|INMT-FAM188B_ENST00000458257.1_Intron	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	142	S-adenosyl-L-methionine binding.					cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						GCTCAAGTGCGATGTCCACCT	0.657000													18	44					0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100390825	100390825	+	Splice_Site	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:100390825C>T	ENST00000281806.2	-	4	901	c.587_splice	c.e4+1	p.W196_splice	MCHR2_ENST00000369212.1_Splice_Site_p.W196_splice|MCHR2_ENST00000445970.1_Splice_Site_p.W196_splice	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	196						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CACAACTTACCAGAGTACATC	0.408000													16	59					0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113547963	113547963	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:113547963C>T	ENST00000416899.2	+	11	1845	c.1719C>T	c.(1717-1719)atC>atT	p.I573I	MUSK_ENST00000189978.5_Silent_p.I581I|MUSK_ENST00000374448.4_Silent_p.I581I|MUSK_ENST00000374438.1_Silent_p.I97I			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	581					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TGAGAGACATCGGAGAGGGAG	0.428000													46	49					0	0	1	0	0
SVOPL	136306	broad.mit.edu	37	7	138305846	138305846	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:138305846C>T	ENST00000421622.1	-	10	1146	c.938G>A	c.(937-939)gGa>gAa	p.G313E	SVOPL_ENST00000288513.5_Missense_Mutation_p.G281E|SVOPL_ENST00000419765.3_Missense_Mutation_p.G433E|SVOPL_ENST00000463557.1_Intron|SVOPL_ENST00000436657.1_Missense_Mutation_p.G281E			Q8N434	SVOPL_HUMAN	SVOP-like	433						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GCCGCTGGTTCCCATCCCCAA	0.592000													12	73					0	0	1	0	0
TNFRSF6B	8771	broad.mit.edu	37	20	62328320	62328320	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:62328320C>T	ENST00000369996.1	+	1	300	c.200C>T	c.(199-201)cCc>cTc	p.P67L	RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.P1369P|RTEL1_ENST00000318100.4_Silent_p.P1369P	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	67					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			CGAGACAGCCCCACGACGTGT	0.697000													3	16					0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911020	230911020	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:230911020C>T	ENST00000295190.4	-	4	1280	c.822G>A	c.(820-822)agG>agA	p.R274R		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	274						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		ACATGTTCTTCCTGTGCCCGG	0.592000													23	90					0	0	1	0	0
EOMES	8320	broad.mit.edu	37	3	27762916	27762916	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:27762916C>T	ENST00000295743.4	-	1	1073	c.870G>A	c.(868-870)acG>acA	p.T290T	EOMES_ENST00000449599.1_Silent_p.T290T|EOMES_ENST00000461503.1_Intron|EOMES_ENST00000537516.1_Intron			O95936	EOMES_HUMAN	eomesodermin	290					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						TGCCCTGTTTCGTAATGATCA	0.617000													9	20					0	0	1	0	0
C17orf77	146723	broad.mit.edu	37	17	72588490	72588490	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:72588490C>T	ENST00000392620.1	+	3	667	c.305C>T	c.(304-306)tCt>tTt	p.S102F	C17orf77_ENST00000328023.2_Missense_Mutation_p.S102F	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	102						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						AGCTACTTCTCTTTTTACATA	0.413000													20	91					0	0	1	0	0
RFWD3	55159	broad.mit.edu	37	16	74695298	74695298	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:74695298G>A	ENST00000361070.4	-	2	147	c.50C>T	c.(49-51)gCc>gTc	p.A17V	RFWD3_ENST00000571750.1_Missense_Mutation_p.A17V	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	17					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CTGTTGTTCGGCATGATTTAA	0.478000													5	229					0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433643	69433643	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:69433643C>T	ENST00000317746.2	-	1	602	c.560G>A	c.(559-561)gGa>gAa	p.G187E		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	187					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						GAACAGAAATCCTCCACCATT	0.398000													23	129					0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38645006	38645006	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:38645006C>T	ENST00000254051.6	-	3	813	c.655G>A	c.(655-657)Gag>Aag	p.E219K		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	219	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GAGAGACCCTCTGAGGGGGGC	0.652000													18	65					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158323802	158323802	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:158323802C>T	ENST00000444681.2	+	1	317	c.24C>T	c.(22-24)ttC>ttT	p.F8F	CD1E_ENST00000368157.1_Silent_p.F8F|CD1E_ENST00000368167.3_Silent_p.F8F|CD1E_ENST00000368154.1_Silent_p.F8F|CD1E_ENST00000368164.3_Silent_p.F8F|CD1E_ENST00000368160.3_Silent_p.F8F|CD1E_ENST00000368163.3_Silent_p.F8F|CD1E_ENST00000434258.1_Intron|CD1E_ENST00000368155.3_Silent_p.F8F|CD1E_ENST00000368161.3_Silent_p.F8F|CD1E_ENST00000368166.3_Silent_p.F8F|CD1E_ENST00000368156.1_Silent_p.F8F|CD1E_ENST00000452291.2_Silent_p.F8F|CD1E_ENST00000368165.3_Silent_p.F8F	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	8					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		p.F8L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TCCTCCTCTTCGAGGGTCTCT	0.522000													34	63					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1513981	1513981	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:1513981G>A	ENST00000389470.4	-	42	6263	c.6264C>T	c.(6262-6264)atC>atT	p.I2088I	INTS1_ENST00000404767.3_Silent_p.I1884I			Q8N201	INT1_HUMAN	integrator complex subunit 1	1884					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGAGCGCCGCGATCATGGGCA	0.726000													27	55					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39472691	39472691	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:39472691C>T	ENST00000518318.2	+	7	1084	c.1042C>T	c.(1042-1044)Cca>Tca	p.P348S	POU6F2_ENST00000403058.1_Missense_Mutation_p.P348S|POU6F2_ENST00000559001.1_Missense_Mutation_p.P293S			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	348	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CGGGACCATTCCACTGATGCC	0.587000													22	47					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79351564	79351564	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:79351564G>A	ENST00000264895.6	+	37	5402	c.4962G>A	c.(4960-4962)atG>atA	p.M1654I	FRAS1_ENST00000325942.6_Missense_Mutation_p.M1654I	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1653					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GAAGGCCGATGGCCACAGGTA	0.502000													5	17					0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58190555	58190555	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:58190555G>A	ENST00000302581.2	-	1	231	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGTTACTGAGGAAAAAGTACA	0.502000													26	91					0	0	1	0	0
ZNF579	163033	broad.mit.edu	37	19	56090215	56090215	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:56090215G>A	ENST00000325421.4	-	2	819	c.791C>T	c.(790-792)cCg>cTg	p.P264L		NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		GGGGCGTGGCGGGGGCCCCCC	0.716000													5	12					0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125626756	125626756	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:125626756C>T	ENST00000545511.1	+	7	5523	c.536C>T	c.(535-537)cCt>cTt	p.P179L	AACS_ENST00000316519.6_Missense_Mutation_p.P667L|AACS_ENST00000261686.6_Silent_p.P599P|AACS_ENST00000543665.1_Missense_Mutation_p.P99L|AACS_ENST00000316543.10_Missense_Mutation_p.P265L			Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	667					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		CGGGACATCCCTGAGCTGCAG	0.532000													13	55					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874674	36874674	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:36874674G>A	ENST00000301807.6	-	21	6515	c.4618C>T	c.(4618-4620)Cct>Tct	p.P1540S	TRANK1_ENST00000428977.2_Missense_Mutation_p.P1540S|TRANK1_ENST00000429976.2_Missense_Mutation_p.P2090S	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2090					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ATGGGCCCAGGGTCATTCTGA	0.378000													8	18					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183721336	183721336	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:183721336G>A	ENST00000511685.1	+	28	8055	c.7932G>A	c.(7930-7932)gaG>gaA	p.E2644E	TENM3_ENST00000406950.2_Silent_p.E2644E					teneurin transmembrane protein 3																		GCGACGGCGAGGAGGGCGCGC	0.736000													4	16					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2711109	2711109	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:2711109C>T	ENST00000399655.1	+	22	3208	c.2943C>T	c.(2941-2943)ctC>ctT	p.L981L	CACNA1C_ENST00000399597.1_Silent_p.L981L|CACNA1C_ENST00000399629.1_Silent_p.L981L|CACNA1C_ENST00000399603.1_Silent_p.L981L|CACNA1C_ENST00000347598.4_Silent_p.L1001L|CACNA1C_ENST00000399634.1_Silent_p.L981L|CACNA1C_ENST00000399637.1_Silent_p.L981L|CACNA1C_ENST00000399591.1_Silent_p.L981L|CACNA1C_ENST00000399617.1_Silent_p.L981L|CACNA1C_ENST00000399621.1_Silent_p.L981L|CACNA1C_ENST00000402845.3_Silent_p.L981L|CACNA1C_ENST00000327702.7_Silent_p.L981L|CACNA1C_ENST00000399641.1_Silent_p.L981L|CACNA1C_ENST00000399595.1_Silent_p.L981L|CACNA1C_ENST00000399638.1_Silent_p.L981L|CACNA1C_ENST00000335762.5_Silent_p.L1006L|CACNA1C_ENST00000344100.3_Silent_p.L981L|CACNA1C_ENST00000480911.1_Silent_p.L981L|CACNA1C_ENST00000399644.1_Silent_p.L981L|CACNA1C_ENST00000399601.1_Silent_p.L981L|CACNA1C_ENST00000399606.1_Silent_p.L1001L|CACNA1C_ENST00000399649.1_Silent_p.L981L|CACNA1C_ENST00000406454.3_Silent_p.L981L	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1001					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCGTGTCCCTCATCTCCTTTG	0.592000													17	44					0	0	1	0	0
ZRSR1	7310	broad.mit.edu	37	5	112228216	112228216	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:112228216G>A	ENST00000391338.1	+	1	904	c.880G>A	c.(880-882)Gga>Aga	p.G294R	REEP5_ENST00000474542.2_Intron|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000379638.4_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000545426.1_3'UTR|REEP5_ENST00000504247.1_Intron	NM_001204199.1	NP_001191128.1			zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1											breast(1)|skin(1)|stomach(2)	4						TCTGTTTAACGGACGATGGTA	0.468000													25	169					0	0	1	0	0
MCU	90550	broad.mit.edu	37	10	74631154	74631154	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:74631154G>A	ENST00000536019.1	+	6	975	c.530G>A	c.(529-531)aGa>aAa	p.R177K	MCU_ENST00000357157.6_Missense_Mutation_p.R205K|MCU_ENST00000605416.1_3'UTR|MCU_ENST00000373053.3_Missense_Mutation_p.R226K	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	226					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						GAGATTAGCAGAAAAGCTGAG	0.433000													42	192					0	0	1	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29410813	29410813	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:29410813G>A	ENST00000283351.4	-	29	4548	c.4213C>T	c.(4213-4215)Cct>Tct	p.P1405S	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.P1351S	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1405					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AATACCCTAGGAGTTCCAAGG	0.413000													13	44					0	0	1	0	0
CRTAC1	55118	broad.mit.edu	37	10	99770919	99770919	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:99770919C>T	ENST00000370597.3	-	2	555	c.200G>A	c.(199-201)gGg>gAg	p.G67E	CRTAC1_ENST00000298819.4_Missense_Mutation_p.G67E|CRTAC1_ENST00000370591.2_Missense_Mutation_p.G67E	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	67						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CTCAAAGTCCCCATCATGGTC	0.483000													24	88					0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142881158	142881158	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:142881158G>A	ENST00000446620.1	+	1	647	c.647G>A	c.(646-648)gGg>gAg	p.G216E		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	216					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TTTAACCTGGGGATTGTGACT	0.468000													46	84					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76501376	76501376	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:76501376G>A	ENST00000307431.8	+	11	1993	c.1608G>A	c.(1606-1608)ggG>ggA	p.G536G	CNTNAP4_ENST00000377504.4_Silent_p.G488G|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.G464G|CNTNAP4_ENST00000476707.1_Silent_p.G540G	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	537	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGTCCCTTGGGAACTTCAGTG	0.438000													12	29					0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106064220	106064220	+	Missense_Mutation	SNP	A	A	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:106064220A>G	ENST00000357242.5	+	3	529	c.355A>G	c.(355-357)Ata>Gta	p.I119V	TBC1D8B_ENST00000481617.2_Missense_Mutation_p.I119V|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.I119V|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.I119V	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	119						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACAAGGAAAAATAAGAGTAAG	0.338000													14	16					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184764540	184764540	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:184764540C>T	ENST00000367511.3	-	14	2551	c.2358G>A	c.(2356-2358)ggG>ggA	p.G786G	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	786	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CTGGAAATCCCCCCAACTCCT	0.667000													134	272					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52603882	52603882	+	Splice_Site	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:52603882C>T	ENST00000395489.2	-	6	475	c.78_splice	c.e6-1	p.E27_splice	A1CF_ENST00000374001.1_Splice_Site_p.E34_splice|A1CF_ENST00000373997.3_Splice_Site_p.E34_splice|A1CF_ENST00000282641.2_Splice_Site_p.E34_splice|A1CF_ENST00000373995.3_Splice_Site_p.E42_splice|A1CF_ENST00000373993.1_Splice_Site_p.E34_splice|A1CF_ENST00000395495.1_Splice_Site_p.E34_splice	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	34					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.E42K(2)|p.E34K(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TGTCCATTTTCCTGCAAATCC	0.413000													16	43					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170062935	170062935	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:170062935C>T	ENST00000263816.3	-	39	7580	c.7295G>A	c.(7294-7296)aGa>aAa	p.R2432K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2432					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GAAGTAGATTCTATCACTTAC	0.423000													10	35					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13762831	13762831	+	Splice_Site	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:13762831C>T	ENST00000265104.4	-	60	10385	c.10281_splice	c.e60+1	p.K3427_splice		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3427	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCAGGCTTACCTTCAGAGGCA	0.502000									Kartagener syndrome				13	27					0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57381937	57381937	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:57381937C>T	ENST00000403558.1	+	7	1881	c.1515C>T	c.(1513-1515)atC>atT	p.I505I	SERPING1_ENST00000378324.2_Silent_p.I410I|SERPING1_ENST00000340687.6_Silent_p.I425I|SERPING1_ENST00000278407.4_Silent_p.I462I|SERPING1_ENST00000378323.4_Silent_p.I467I	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	462					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CCTCCGCCATCTCTGTGGCCC	0.602000													11	43					0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207413062	207413062	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:207413062G>A	ENST00000264377.3	+	8	1179	c.851G>A	c.(850-852)aGg>aAg	p.R284K	ADAM23_ENST00000374415.3_Missense_Mutation_p.R284K|ADAM23_ENST00000374416.1_Missense_Mutation_p.R284K	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	284					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TTGAAAAGAAGGAAGAGAGCA	0.413000													14	51					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196879556	196879556	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:196879556G>A	ENST00000367416.2	+	6	1079	c.942G>A	c.(940-942)tgG>tgA	p.W314*	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Nonsense_Mutation_p.W68*|CFHR4_ENST00000251424.4_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						GAAGTTACTGGGATTACATTC	0.403000													12	105					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155447901	155447901	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:155447901G>A	ENST00000368346.3	-	3	5399	c.4760C>T	c.(4759-4761)tCc>tTc	p.S1587F	ASH1L_ENST00000392403.3_Missense_Mutation_p.S1587F			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1587	Ser-rich.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCCTCCAAGGGATAAGCTTGG	0.478000													42	40					0	0	1	0	0
RUNX1	861	broad.mit.edu	37	21	36171685	36171685	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr21:36171685G>A	ENST00000344691.4	-	5	2376	c.799C>T	c.(799-801)Cct>Tct	p.P267S	RUNX1_ENST00000399240.1_Missense_Mutation_p.P203S|RUNX1_ENST00000325074.5_Missense_Mutation_p.P282S|RUNX1_ENST00000437180.1_Missense_Mutation_p.P294S|RUNX1_ENST00000300305.3_Missense_Mutation_p.P294S	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	267	Pro/Ser/Thr-rich.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TGCACAGAAGGAGAGGCAATG	0.517000			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								23	59					0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449691	105449691	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:105449691C>T	ENST00000337685.2	+	5	1051	c.266C>T	c.(265-267)tCa>tTa	p.S89L	MUM1L1_ENST00000372552.1_Missense_Mutation_p.S89L|MUM1L1_ENST00000357175.2_Missense_Mutation_p.S89L	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	89										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TATGGAAGATCACTAAAAGTG	0.418000													11	13					0	0	1	0	0
ASIC1	41	broad.mit.edu	37	12	50471792	50471792	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:50471792C>T	ENST00000228468.4	+	5	1104	c.719C>T	c.(718-720)tCc>tTc	p.S240F	ASIC1_ENST00000552438.1_Missense_Mutation_p.S274F|ASIC1_ENST00000447966.2_Missense_Mutation_p.S240F	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	240					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GACGAGACGTCCTTCGAAGCA	0.567000													29	94					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857846	9857846	+	Silent	SNP	T	T	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:9857846T>C	ENST00000396573.2	-	14	3864	c.3555A>G	c.(3553-3555)aaA>aaG	p.K1185K	GRIN2A_ENST00000330684.3_Silent_p.K1185K|GRIN2A_ENST00000396575.2_Silent_p.K1185K|GRIN2A_ENST00000535259.1_Silent_p.K1028K|GRIN2A_ENST00000562109.1_Silent_p.K1185K|GRIN2A_ENST00000404927.2_Silent_p.K1185K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1185					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGGAGTAGAGTTTATACTGGT	0.537000													77	326					0	0	1	0	0
TPRX1	284355	broad.mit.edu	37	19	48305460	48305460	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:48305460G>A	ENST00000535759.1	-	4	1098	c.1099C>T	c.(1099-1101)Ccc>Tcc	p.P367S	TPRX1_ENST00000543508.1_Missense_Mutation_p.P260S|TPRX1_ENST00000322175.3_Missense_Mutation_p.P270S			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	270						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		GCTGGGCTGGGAATCGGGCCT	0.652000													6	30					0	0	1	0	0
TBL2	26608	broad.mit.edu	37	7	72985153	72985153	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:72985153G>A	ENST00000305632.5	-	7	1269	c.1028C>T	c.(1027-1029)gCc>gTc	p.A343V	TBL2_ENST00000432538.1_Missense_Mutation_p.A307V|TBL2_ENST00000459913.1_5'UTR	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	343										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				CAAGACCTGGGCGTTGGGGGA	0.617000													25	151					0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134073741	134073741	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:134073741C>T	ENST00000359428.5	+	29	5004	c.4860C>T	c.(4858-4860)acC>acT	p.T1620T	NUP214_ENST00000451030.1_Silent_p.T1621T|NUP214_ENST00000411637.2_Silent_p.T1610T|NUP214_ENST00000483497.2_Silent_p.T446T			P35658	NU214_HUMAN	nucleoporin 214kDa	1620	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CCTCCAGCACCACGTCCATTG	0.577000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								55	79					0	0	1	0	0
KCNA2	3737	broad.mit.edu	37	1	111146437	111146437	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:111146437G>A	ENST00000485317.1	-	3	1641	c.968C>T	c.(967-969)gCc>gTc	p.A323V	KCNA2_ENST00000316361.4_Missense_Mutation_p.A323V|KCNA2_ENST00000369770.3_Intron|KCNA2_ENST00000440270.1_Missense_Mutation_p.A323V			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	323						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		TCTCATGCTGGCTTTGAGGGT	0.488000													11	46					0	0	1	0	0
TNNT3	7140	broad.mit.edu	37	11	1956077	1956077	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:1956077C>T	ENST00000381558.1	+	13	864	c.585C>T	c.(583-585)ctC>ctT	p.L195L	TNNT3_ENST00000446240.1_Silent_p.L184L|TNNT3_ENST00000381589.3_Silent_p.L201L|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000397304.2_Silent_p.L184L|TNNT3_ENST00000381579.3_Silent_p.L195L|TNNT3_ENST00000360603.3_Silent_p.L197L|TNNT3_ENST00000381548.3_Silent_p.L205L|TNNT3_ENST00000381549.3_Silent_p.L195L|TNNT3_ENST00000278317.6_Silent_p.L203L|TNNT3_ENST00000381561.4_Silent_p.L206L|TNNT3_ENST00000397301.1_Silent_p.L214L			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	214					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		CCAAGGAGCTCTGGGAGACCC	0.612000													35	161					0	0	1	0	0
SULT2A1	6822	broad.mit.edu	37	19	48387042	48387042	+	Splice_Site	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:48387042C>T	ENST00000222002.3	-	2	276	c.136_splice	c.e2-1	p.G46_splice		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	46					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		CCAGTTTGTTCCTGGAAAAAG	0.507000													4	31					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188377	152188377	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:152188377C>T	ENST00000368801.2	-	3	5803	c.5728G>A	c.(5728-5730)Ggt>Agt	p.G1910S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1910					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTTGTTCACCCCTAGATGAC	0.552000													189	3268					0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66465411	66465411	+	Missense_Mutation	SNP	G	G	A	rs147639877		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:66465411G>A	ENST00000383703.3	-	5	1183	c.580C>T	c.(580-582)Cgc>Tgc	p.R194C	LRIG1_ENST00000273261.3_Missense_Mutation_p.R194C			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	194						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TTGCTCAGGCGAAGAGTTAGC	0.478000													20	65					0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172163026	172163026	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:172163026G>A	ENST00000241256.2	-	2	1068	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P		NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	342					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	p.P342P(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TCTGGGAGAAGGGTTCGAATC	0.478000													25	93					0	0	1	0	0
AQP12A	375318	broad.mit.edu	37	2	241631351	241631351	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:241631351C>T	ENST00000429564.1	+	1	84	c.21C>T	c.(19-21)tcC>tcT	p.S7S	AQP12A_ENST00000337801.4_Silent_p.S7S			Q8IXF9	AQ12A_HUMAN	aquaporin 12A	7						integral to membrane	transporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		TTAACGTGTCCCTCTCCTTCT	0.667000													16	87					0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96707465	96707465	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:96707465G>A	ENST00000542454.2	+	3	3807	c.719G>A	c.(718-720)aGg>aAg	p.R240K	RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000306005.3_Missense_Mutation_p.R267K|BDKRB2_ENST00000539359.1_Missense_Mutation_p.R240K|BDKRB2_ENST00000554311.1_Missense_Mutation_p.R267K			P30411	BKRB2_HUMAN	bradykinin receptor B2	267					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		ACAGAGAGGAGGGCCACGGTG	0.567000													9	37					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47422100	47422100	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:47422100C>T	ENST00000404338.3	+	1	168	c.168C>T	c.(166-168)tcC>tcT	p.S56S		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	56					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										ACCATACCTCCGTCCTCAGCA	0.537000													22	68					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179476580	179476580	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:179476580C>T	ENST00000589042.1	-	268	50680	c.50456G>A	c.(50455-50457)gGa>gAa	p.G16819E	TTN_ENST00000342175.6_Missense_Mutation_p.G7946E|TTN_ENST00000342992.6_Missense_Mutation_p.G14251E|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G7879E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G15178E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G7754E|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15178	Ig-like 101.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACCTCTGTTCCTTCGATGAC	0.458000													27	84					0	0	1	0	0
TOMM22	56993	broad.mit.edu	37	22	39078065	39078065	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:39078065C>T	ENST00000216034.4	+	1	113	c.82C>T	c.(82-84)Cct>Tct	p.P28S		NM_020243.4	NP_064628.1	Q9NS69	TOM22_HUMAN	translocase of outer mitochondrial membrane 22 homolog (yeast)	28					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity|receptor activity			large_intestine(1)|lung(2)	3	Melanoma(58;0.04)					CGCGGAGAAGCCTGAGGAGGA	0.692000													5	21					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21822664	21822664	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:21822664G>A	ENST00000216297.2	-	23	3034	c.2696C>T	c.(2695-2697)tCc>tTc	p.S899F		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	899					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CCAGTTGAGGGACTGTACTCC	0.433000													11	58					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101430917	101430917	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:101430917C>T	ENST00000392979.3	+	9	1142	c.781C>T	c.(781-783)Ccc>Tcc	p.P261S	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.P296S	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	296						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGCTGCGTTTCCCCTGCATGA	0.348000										HNSCC(74;0.22)			24	102					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901607	51901607	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:51901607G>A	ENST00000268919.4	+	1	1369	c.1213G>A	c.(1213-1215)Gaa>Aaa	p.E405K		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	405	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAACCTGGTGGAAATAGGGAA	0.522000													12	53					0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207874875	207874875	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:207874875G>A	ENST00000508064.2	+	9	1300	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	414	Sushi 7.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TAAATCATGTGAAACTCCTCC	0.443000													21	106					0	0	1	0	0
LARS2	23395	broad.mit.edu	37	3	45583412	45583412	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:45583412C>T	ENST00000415258.1	+	20	2637	c.2496C>T	c.(2494-2496)ttC>ttT	p.F832F	LARS2_ENST00000414984.1_Silent_p.F789F|LARS2_ENST00000265537.3_Silent_p.F832F			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	832					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	ACCCGGAGTTCCTGCAGCAGC	0.612000													15	49					0	0	1	0	0
MAP10	54627	broad.mit.edu	37	1	232943714	232943714	+	Missense_Mutation	SNP	T	T	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:232943714T>C	ENST00000418460.1	+	1	3072	c.2945T>C	c.(2944-2946)tTa>tCa	p.L982S		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		TGGAAATCTTTAGAAAAAAGC	0.368000													127	113					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119109765	119109765	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:119109765C>T	ENST00000264245.4	+	7	1348	c.816C>T	c.(814-816)agC>agT	p.S272S		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	272					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGGAGAACAGCCTGCCTGAGA	0.542000													6	36					0	0	1	0	0
LY6H	4062	broad.mit.edu	37	8	144239833	144239833	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:144239833G>A	ENST00000414417.2	-	5	553	c.320C>T	c.(319-321)tCa>tTa	p.S107L	LY6H_ENST00000342752.4_Missense_Mutation_p.S107L|LY6H_ENST00000430474.2_Missense_Mutation_p.S86L	NM_001130478.1	NP_001123950.1	O94772	LY6H_HUMAN	lymphocyte antigen 6 complex, locus H	86					nervous system development|organ morphogenesis	anchored to membrane|plasma membrane				endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CAGATAGTCTGAGAAAAAGTG	0.547000													36	91					0	0	1	0	0
KLK6	5653	broad.mit.edu	37	19	51462448	51462448	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:51462448C>T	ENST00000376851.3	-	6	1146	c.707G>A	c.(706-708)tGg>tAg	p.W236*	KLK6_ENST00000456750.2_Nonsense_Mutation_p.W129*|KLK6_ENST00000391808.1_Nonsense_Mutation_p.W129*|KLK6_ENST00000376853.4_Missense_Mutation_p.G108R|KLK6_ENST00000310157.2_Nonsense_Mutation_p.W236*|KLK6_ENST00000594641.1_Nonsense_Mutation_p.W236*|CTB-147C22.8_ENST00000601506.1_RNA	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	236	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		TTTTTGGATCCAGTTCGTGTA	0.542000													36	107					0	0	1	0	0
AVIL	10677	broad.mit.edu	37	12	58203429	58203429	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:58203429C>T	ENST00000537081.1	-	8	868	c.869G>A	c.(868-870)gGa>gAa	p.G290E	AVIL_ENST00000257861.3_Missense_Mutation_p.G297E			O75366	AVIL_HUMAN	advillin	297	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GGCTCCTTTTCCTTTCCACAC	0.448000													14	65					0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82065402	82065402	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:82065402C>T	ENST00000395578.1	-	10	1353	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K	PRKG2_ENST00000418486.2_Missense_Mutation_p.E413K|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000264399.1_Missense_Mutation_p.E413K			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	413					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TGTCTTTTTTCATCATCACGG	0.418000													19	69					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31016149	31016149	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:31016149C>T	ENST00000375687.4	+	6	819	c.395C>T	c.(394-396)tCg>tTg	p.S132L	ASXL1_ENST00000306058.5_Missense_Mutation_p.S127L|ASXL1_ENST00000470145.1_3'UTR|ASXL1_ENST00000542461.1_3'UTR	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	132					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GAAACATCTTCGAACGCATCC	0.488000			"""F, N, Mis"""		"""MDS, CMML"""								63	131					0	0	1	0	0
SSR2	6746	broad.mit.edu	37	1	155981610	155981610	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:155981610G>A	ENST00000496742.1	-	3	269	c.224C>T	c.(223-225)cCc>cTc	p.P75L	SSR2_ENST00000480567.1_Silent_p.S144S|SSR2_ENST00000295702.4_Silent_p.S144S|SSR2_ENST00000529008.1_Intron			P43308	SSRB_HUMAN	signal sequence receptor, beta (translocon-associated protein beta)	178					cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CAAAATGAGGGGAGAATCGCC	0.468000													45	239					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409245	105409245	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:105409245G>A	ENST00000333244.5	-	7	12662	c.12543C>T	c.(12541-12543)ctC>ctT	p.L4181L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4181						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACTGAATGCTGAGGTCAGTGG	0.652000													68	247					0	0	1	0	0
CLRN3	119467	broad.mit.edu	37	10	129676500	129676500	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:129676500G>A	ENST00000368671.3	-	3	756	c.594C>T	c.(592-594)atC>atT	p.I198I		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	198						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				GGTAGAAAATGATGATGGTTA	0.453000													26	122					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78444685	78444685	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:78444685C>T	ENST00000397909.2	+	11	2447	c.2274C>T	c.(2272-2274)tcC>tcT	p.S758S	NAV3_ENST00000266692.7_Silent_p.S758S|NAV3_ENST00000228327.6_Silent_p.S758S|NAV3_ENST00000536525.2_Silent_p.S758S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	758						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATGCTCCCTCCCTGGGTGCTG	0.582000										HNSCC(70;0.22)			15	32					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68115619	68115619	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:68115619C>T	ENST00000294304.7	+	2	502	c.396C>T	c.(394-396)atC>atT	p.I132I		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	132	Beta-propeller 1.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCAACCGCATCGAGGTGGCCA	0.637000													31	136					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55136553	55136553	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:55136553C>T	ENST00000414150.2	+	7	1828	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F	MROH7_ENST00000545244.1_Missense_Mutation_p.S85F|MROH7_ENST00000409996.1_Missense_Mutation_p.S85F|MROH7_ENST00000395690.2_Missense_Mutation_p.S517F|MROH7_ENST00000421030.2_Missense_Mutation_p.S517F|MROH7_ENST00000454855.2_Missense_Mutation_p.S35F|MROH7_ENST00000339553.5_Missense_Mutation_p.S517F					maestro heat-like repeat family member 7																		TCCCTGCCCTCCGTGCAGGCG	0.652000													9	17					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155219524	155219524	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:155219524G>A	ENST00000357232.3	-	18	4576	c.4577C>T	c.(4576-4578)aCc>aTc	p.T1526I		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1526	Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGGATCAATGGTGAATGCACC	0.488000													45	104					0	0	1	0	0
FIG4	9896	broad.mit.edu	37	6	110146467	110146467	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:110146467G>A	ENST00000230124.3	+	23	2847	c.2723G>A	c.(2722-2724)tGa>tAa	p.*908*	FIG4_ENST00000441478.2_Silent_p.*602*	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	0					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		CGCTACCTGTGAAAAGAGCGC	0.488000													9	30					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10940874	10940874	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:10940874C>T	ENST00000314646.5	+	20	2527	c.2363C>T	c.(2362-2364)aCt>aTt	p.T788I	DNM2_ENST00000585892.1_Missense_Mutation_p.T788I|DNM2_ENST00000408974.4_Missense_Mutation_p.T784I|DNM2_ENST00000389253.4_Missense_Mutation_p.T788I|DNM2_ENST00000355667.6_Missense_Mutation_p.T788I|DNM2_ENST00000359692.6_Missense_Mutation_p.T784I			P50570	DYN2_HUMAN	dynamin 2	788	Pro-rich.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			AGGGGCCCCACTCCAGGGCCC	0.692000			"""F, N, Splice, Mis, O"""		ETP ALL								35	91					0	0	1	0	0
GMPS	8833	broad.mit.edu	37	3	155632259	155632259	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:155632259C>T	ENST00000496455.1	+	8	1273	c.938C>T	c.(937-939)tCa>tTa	p.S313L	GMPS_ENST00000295920.7_Missense_Mutation_p.S214L	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	313					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTACCAATATCAGATGAAGAT	0.353000			T	MLL	AML								18	71					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53645303	53645303	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:53645303G>A	ENST00000452676.2	-	5	1207	c.781C>T	c.(781-783)Cct>Tct	p.P261S	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.P261S|ZNF347_ENST00000334197.7_Missense_Mutation_p.P260S	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GATTTGTAAGGGCTTCCCCAA	0.353000													23	103					0	0	1	0	0
FTH1P3	2498	broad.mit.edu	37	5	17354545	17354545	+	RNA	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:17354545G>A	ENST00000511821.1	+	0	404				FTH1P10_ENST00000401830.3_RNA																							CGGCGACTAAGGAGAGGCGGC	0.682000													8	12					0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233899037	233899037	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:233899037C>T	ENST00000233840.3	+	2	413	c.413C>T	c.(412-414)tCc>tTc	p.S138F		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	138							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		ACCTGGAGCTCCCCCAGAGAC	0.647000													7	48					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43924767	43924767	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:43924767G>A	ENST00000262726.7	-	32	4725	c.4472C>T	c.(4471-4473)tCc>tTc	p.S1491F	EFCAB6_ENST00000396231.2_Missense_Mutation_p.S1339F|EFCAB6-AS1_ENST00000431327.2_RNA|EFCAB6_ENST00000461800.1_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1491	EF-hand 17.|Interaction with AR.|Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GTCGTTGTAGGAGATTTTTGA	0.498000													69	97					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182852725	182852725	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:182852725C>T	ENST00000367549.3	+	26	3325	c.3215C>T	c.(3214-3216)tCc>tTc	p.S1072F	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1072					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CTCTTTGCCTCCAAGAAAGTC	0.413000													18	173					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248603	20248603	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:20248603G>A	ENST00000315957.4	+	1	203	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G41A(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCCTACCAGGAAATATCCTT	0.423000													59	401					0	0	1	0	0
CARD9	64170	broad.mit.edu	37	9	139265103	139265103	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:139265103C>T	ENST00000371732.5	-	5	843	c.678G>A	c.(676-678)gtG>gtA	p.V226V	CARD9_ENST00000315908.7_Silent_p.V226V|CARD9_ENST00000371734.3_Silent_p.V226V	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	226					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GCTTGCGCTCCACCTTGCAGT	0.657000													19	69					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54922088	54922088	+	Silent	SNP	C	C	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:54922088C>A	ENST00000293373.6	+	22	2512	c.2433C>A	c.(2431-2433)gcC>gcA	p.A811A	NCKAP1L_ENST00000545638.2_Silent_p.A761A	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	811					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TCTCCCCAGCCATGCAGGCCT	0.542000													44	154					5.20006e-24	5.25322e-24	1	1	0
MYH3	4621	broad.mit.edu	37	17	10532971	10532971	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:10532971G>A	ENST00000583535.1	-	40	5826	c.5739C>T	c.(5737-5739)atC>atT	p.I1913I	MYH3_ENST00000226209.7_Silent_p.I1913I	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1913					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GAGATTCTGCGATATCCGCAC	0.567000													16	55					0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58607126	58607126	+	Splice_Site	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:58607126C>T	ENST00000287275.1	-	2	351		c.e2-1		GLYATL2_ENST00000533636.1_Intron|GLYATL2_ENST00000532258.1_Splice_Site	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2							mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	AGAAGATGATCTAAGGAAATA	0.383000													4	23					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179614127	179614127	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:179614127G>A	ENST00000360870.5	-	46	13222	c.13000C>T	c.(13000-13002)Ccc>Tcc	p.P4334S	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	468	Ig-like 23.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAAATCTGGGAATTTTTTCT	0.403000													20	63					0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37524490	37524490	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:37524490G>A	ENST00000216223.5	-	10	1500	c.1302C>T	c.(1300-1302)ctC>ctT	p.L434L		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	434					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGCCACCGAGGAGACTGGGGG	0.662000													5	57					0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68405878	68405878	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:68405878G>A	ENST00000219334.5	-	3	810	c.207C>T	c.(205-207)gcC>gcT	p.A69A	SMPD3_ENST00000563226.1_Silent_p.A69A|SMPD3_ENST00000568373.1_Silent_p.A69A	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	69					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CCACCAGGAGGGCCAGGTAGA	0.637000													3	22					0	0	1	0	0
FFAR1	2864	broad.mit.edu	37	19	35842700	35842700	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:35842700C>T	ENST00000246553.2	+	1	256	c.246C>T	c.(244-246)ttC>ttT	p.F82F		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	82					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	GCCCCGTCTTCGCGGTGGCCC	0.701000													4	9					0	0	1	0	0
KLRC2	3822	broad.mit.edu	37	12	10588010	10588010	+	Splice_Site	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:10588010C>T	ENST00000381902.2	-	2	194		c.e2-1		NKG2-E_ENST00000539033.1_Splice_Site|KLRC2_ENST00000536833.2_Splice_Site|KLRC2_ENST00000381901.1_Splice_Site	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2						cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						GGCAGTAAACCTGCAGGGAGA	0.448000													13	119					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175375835	175375835	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:175375835C>T	ENST00000367674.1	-	3	724	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	TNR_ENST00000263525.2_Missense_Mutation_p.E6K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	6					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACCACTGTTTCCCCATCTGCC	0.532000													85	117					0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74625132	74625132	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:74625132G>A	ENST00000321288.5	+	18	2493	c.2493G>A	c.(2491-2493)ctG>ctA	p.L831L	CCDC33_ENST00000398814.3_Silent_p.L628L|CCDC33_ENST00000558821.1_Silent_p.L221L|CCDC33_ENST00000268082.4_Silent_p.L221L			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	831							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGACGGAGCTGGATAAGAACC	0.612000													24	90					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22364073	22364073	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:22364073G>A	ENST00000397121.2	-	3	763	c.446C>T	c.(445-447)tCa>tTa	p.S149L		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CATGCAAAATGATCTGACATA	0.333000													16	59					0	0	1	0	0
GJA4	2701	broad.mit.edu	37	1	35260324	35260324	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:35260324C>T	ENST00000342280.4	+	2	598	c.510C>T	c.(508-510)ctC>ctT	p.L170L		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	170					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CAGGCTTCCTCTATGGCCAGT	0.627000													11	28					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055301	72055301	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:72055301C>T	ENST00000555818.1	+	2	1060	c.712C>T	c.(712-714)Cca>Tca	p.P238S	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.P238S|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.P238S	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	238					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TGATCGAGGTCCAACTCCAAC	0.423000													24	77					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71747918	71747918	+	Splice_Site	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:71747918G>A	ENST00000258104.3	+	11	1214		c.e11-1		DYSF_ENST00000429174.2_Splice_Site|DYSF_ENST00000410020.3_Splice_Site|DYSF_ENST00000410041.1_Splice_Site|DYSF_ENST00000409762.1_Splice_Site|DYSF_ENST00000409582.3_Splice_Site|DYSF_ENST00000409366.1_Splice_Site|DYSF_ENST00000409651.1_Splice_Site|DYSF_ENST00000413539.2_Splice_Site|DYSF_ENST00000409744.1_Splice_Site|DYSF_ENST00000394120.2_Splice_Site	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin							cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTCTCTCTTAGGGCACGCCTA	0.577000													22	64					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112740536	112740536	+	Missense_Mutation	SNP	G	G	A	rs138908058	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:112740536G>A	ENST00000295408.4	+	8	1519	c.1262G>A	c.(1261-1263)cGg>cAg	p.R421Q	MERTK_ENST00000409780.1_Missense_Mutation_p.R245Q|MERTK_ENST00000421804.2_Missense_Mutation_p.R421Q			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	421	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GTGGGCTACCGGATATCCCAC	0.453000													17	58					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193048987	193048987	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:193048987C>T	ENST00000342358.4	-	12	1503	c.1386G>A	c.(1384-1386)aaG>aaA	p.K462K		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	462	Poly-Lys.				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.K462K(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTTTCTTTTTCTTCAGTCTCT	0.478000													23	49					0	0	1	0	0
C5orf20	140947	broad.mit.edu	37	5	134782587	134782587	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:134782587C>T	ENST00000503143.2	-	1	451	c.212G>A	c.(211-213)gGg>gAg	p.G71E	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	chromosome 5 open reading frame 20	71						nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTTGTTCCTCCCTGGAGGGTA	0.602000													9	32					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136593187	136593187	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:136593187C>T	ENST00000531224.1	-	8	2241	c.1989G>A	c.(1987-1989)agG>agA	p.R663R	BCLAF1_ENST00000530767.1_Silent_p.R490R|BCLAF1_ENST00000353331.4_Silent_p.R661R|BCLAF1_ENST00000392348.2_Silent_p.R661R|BCLAF1_ENST00000527536.1_Silent_p.R663R|BCLAF1_ENST00000527759.1_Silent_p.R661R	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	663					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GGGTATGCTTCCTCAGGGTAC	0.303000													5	50					0	0	1	0	0
STOX1	219736	broad.mit.edu	37	10	70645791	70645791	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:70645791G>A	ENST00000298596.6	+	3	2322	c.2239G>A	c.(2239-2241)Gac>Aac	p.D747N	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.D747N|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.D637N	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	747						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TGAGAATGACGACTTACGTCA	0.428000													22	56					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32064385	32064385	+	Missense_Mutation	SNP	C	C	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:32064385C>G	ENST00000375244.3	-	3	1446	c.1245G>C	c.(1243-1245)gaG>gaC	p.E415D	TNXB_ENST00000375247.2_Missense_Mutation_p.E415D|TNXB_ENST00000479795.1_Missense_Mutation_p.E415D			P22105	TENX_HUMAN	tenascin XB	415	EGF-like 9.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGCGGCCGTCCTCGCAGCGGC	0.711000													8	7					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101765776	101765776	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:101765776C>T	ENST00000375001.3	+	8	1530	c.1107C>T	c.(1105-1107)atC>atT	p.I369I		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	369	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGGTGCCCATCAGCACTGCTG	0.577000													46	54					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51210213	51210213	+	Missense_Mutation	SNP	G	G	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:51210213G>C	ENST00000245441.5	-	24	5412	c.5222C>G	c.(5221-5223)gCg>gGg	p.A1741G	NIN_ENST00000453196.1_Missense_Mutation_p.A1741G|NIN_ENST00000389868.3_Missense_Mutation_p.A1028G|NIN_ENST00000382043.4_Missense_Mutation_p.A1028G|NIN_ENST00000382041.3_Missense_Mutation_p.A1741G|NIN_ENST00000324330.9_Missense_Mutation_p.A1741G|NIN_ENST00000530997.2_Missense_Mutation_p.A1741G	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1741					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTTCATCGTCGCAATTCTATG	0.408000			T	PDGFRB	MPD								6	28					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82785203	82785203	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:82785203G>A	ENST00000423517.2	-	2	1091	c.754C>T	c.(754-756)Cca>Tca	p.P252S	PCLO_ENST00000333891.8_Missense_Mutation_p.P252S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	252	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCTGTACCTGGAGGTTGTGAT	0.473000													9	49					0	0	1	0	0
MOSPD3	64598	broad.mit.edu	37	7	100210471	100210471	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:100210471G>A	ENST00000393950.2	+	1	339	c.57G>A	c.(55-57)cgG>cgA	p.R19R	MOSPD3_ENST00000379527.2_Silent_p.R19R|MOSPD3_ENST00000424091.2_Silent_p.R19R|MOSPD3_ENST00000223054.4_Silent_p.R19R	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	19						integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					cccctgggcgggggtcccggg	0.736000													30	31					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158596683	158596683	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:158596683C>T	ENST00000368148.3	-	41	5959	c.5779G>A	c.(5779-5781)Gat>Aat	p.D1927N	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.D1924N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1927					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AAGGCATAATCGTCTTCCAAT	0.448000													25	237					0	0	1	0	0
CAND2	23066	broad.mit.edu	37	3	12857995	12857995	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:12857995C>T	ENST00000456430.2	+	10	1605	c.1564C>T	c.(1564-1566)Ctc>Ttc	p.L522F	CAND2_ENST00000295989.5_Missense_Mutation_p.L429F	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	522					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CTTGCCTATCCTCCTGCCACC	0.647000													13	59					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73063712	73063712	+	RNA	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:73063712G>A	ENST00000429829.1	-	0	8876					NR_001564.2																						TACTACAAAGGAAAGGTGATG	0.398000													12	10					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898910	36898910	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:36898910C>T	ENST00000301807.6	-	12	2418	c.521G>A	c.(520-522)gGa>gAa	p.G174E	TRANK1_ENST00000428977.2_Missense_Mutation_p.G174E|TRANK1_ENST00000429976.2_Missense_Mutation_p.G724E	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	724					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ATCTTTCTTTCCTTCTTTGCC	0.562000													28	80					0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200213792	200213792	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:200213792C>T	ENST00000443023.1	-	6	2093	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	SATB2_ENST00000260926.5_Missense_Mutation_p.E269K|SATB2_ENST00000428695.1_Missense_Mutation_p.E151K|SATB2_ENST00000457245.1_Missense_Mutation_p.E269K|SATB2_ENST00000417098.1_Missense_Mutation_p.E269K			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	269						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGAGACTGTTCGTTGGTTTTC	0.498000													13	55					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33927861	33927861	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:33927861C>T	ENST00000389232.4	+	26	3292	c.3222C>T	c.(3220-3222)ttC>ttT	p.F1074F	RYR3_ENST00000415757.3_Silent_p.F1074F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1074	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCCGATTTTTCCGGGTAGAGC	0.512000													8	24					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99690358	99690358	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:99690358G>A	ENST00000524871.1	+	4	429	c.139G>A	c.(139-141)Ggt>Agt	p.G47S	CNTN5_ENST00000527185.1_Missense_Mutation_p.G47S|CNTN5_ENST00000528682.1_Missense_Mutation_p.G47S|CNTN5_ENST00000279463.3_Missense_Mutation_p.G47S|CNTN5_ENST00000418526.2_Intron	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	47					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATCTCTCTTTGGTTCCAAAAC	0.418000													10	57					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346753	48346753	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:48346753C>T	ENST00000319856.4	+	1	282	c.261C>T	c.(259-261)ttC>ttT	p.F87F		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGTATTTTTTCCTGGCCAACC	0.453000													10	86					0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72294536	72294536	+	Missense_Mutation	SNP	A	A	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:72294536A>C	ENST00000334456.5	-	20	1919	c.1674T>G	c.(1672-1674)aaT>aaG	p.N558K	PDE2A_ENST00000540345.1_Missense_Mutation_p.N549K|PDE2A_ENST00000544570.1_Missense_Mutation_p.N551K|PDE2A_ENST00000444035.2_Missense_Mutation_p.N549K|PDE2A_ENST00000418754.2_Missense_Mutation_p.N443K|PDE2A_ENST00000376450.3_Missense_Mutation_p.N302K	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	558					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	ACTGAGCCTCATTCACTTTTT	0.522000													17	77					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122405975	122405975	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:122405975C>T	ENST00000288912.4	+	17	3525	c.2671C>T	c.(2671-2673)Ccg>Tcg	p.P891S	WDR66_ENST00000397454.2_Missense_Mutation_p.P891S|WDR66_ENST00000545752.1_3'UTR	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	891							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TGTTTGCCACCCGAACGGGGT	0.522000													23	65					0	0	1	0	0
RBM44	375316	broad.mit.edu	37	2	238726810	238726810	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:238726810C>T	ENST00000316997.4	+	3	1383	c.1251C>T	c.(1249-1251)atC>atT	p.I417I	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Silent_p.I417I	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	416							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TACCAAAGATCGCAGTCAGAG	0.373000													13	34					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248569579	248569579	+	Missense_Mutation	SNP	T	T	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:248569579T>C	ENST00000366474.1	+	1	284	c.284T>C	c.(283-285)aTg>aCg	p.M95T		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AATGGGGTTATGATCTTCCTG	0.428000													105	97					0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114823558	114823558	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:114823558C>T	ENST00000315366.7	-	2	2538	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	ARSJ_ENST00000541197.1_Missense_Mutation_p.E558K	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	558						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		ttcttggtttcctcttTATAC	0.448000													5	21					0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19408035	19408035	+	Missense_Mutation	SNP	A	A	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:19408035A>G	ENST00000538714.1	+	5	372	c.368A>G	c.(367-369)aAt>aGt	p.N123S	PLEKHA5_ENST00000424268.1_Missense_Mutation_p.N15S|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.N123S|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.N123S|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.N123S|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.N123S|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.N123S|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.N123S|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.N15S	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	123							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AGTATGATAAATGAAGCTTCT	0.353000													17	46					0	0	1	0	0
RPL3L	6123	broad.mit.edu	37	16	1996690	1996690	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:1996690C>T	ENST00000268661.7	-	7	981	c.887G>A	c.(886-888)gGg>gAg	p.G296E		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	296					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CACCAGCTTCCCGTCCTCCAT	0.647000													14	35					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170009450	170009450	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:170009450C>T	ENST00000263816.3	-	67	12605	c.12320G>A	c.(12319-12321)gGg>gAg	p.G4107E		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4107					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGAGCCCTCCCCTCGCACAGT	0.468000													41	187					0	0	1	0	0
KCNA2	3737	broad.mit.edu	37	1	111146436	111146436	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:111146436G>A	ENST00000485317.1	-	3	1642	c.969C>T	c.(967-969)gcC>gcT	p.A323A	KCNA2_ENST00000316361.4_Silent_p.A323A|KCNA2_ENST00000369770.3_Intron|KCNA2_ENST00000440270.1_Silent_p.A323A			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	323						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		CTCTCATGCTGGCTTTGAGGG	0.488000													12	47					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70553043	70553043	+	Splice_Site	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:70553043G>A	ENST00000260128.4	+	22	3269	c.2551_splice	c.e22-1	p.G851_splice	SULF1_ENST00000402687.4_Splice_Site_p.G851_splice|SULF1_ENST00000458141.2_Splice_Site_p.G851_splice|SULF1_ENST00000419716.3_Splice_Site_p.G851_splice|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	851					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CCTATATCAGGAAATAAAGAT	0.328000													10	25					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70517065	70517065	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:70517065C>T	ENST00000260128.4	+	13	1992	c.1275C>T	c.(1273-1275)tcC>tcT	p.S425S	SULF1_ENST00000402687.4_Silent_p.S425S|SULF1_ENST00000458141.2_Silent_p.S425S|SULF1_ENST00000419716.3_Silent_p.S425S|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	425					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AGGAAGAATCCAGCAAGAATA	0.468000													22	95					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196227451	196227451	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:196227451G>A	ENST00000367433.5	-	25	3113	c.3012C>T	c.(3010-3012)caC>caT	p.H1004H	KCNT2_ENST00000294725.8_Silent_p.H1028H|KCNT2_ENST00000367431.4_Silent_p.H962H|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1028						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTTTACCAGAGTGTTTTGGGC	0.478000													11	76					0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47489651	47489651	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:47489651C>T	ENST00000371901.3	+	1	412	c.162C>T	c.(160-162)ttC>ttT	p.F54F	CYP4X1_ENST00000538609.1_Intron	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	54						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CCCACTGGTTCCTTGGGCACC	0.701000													7	28					0	0	1	0	0
RHOU	58480	broad.mit.edu	37	1	228871628	228871628	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:228871628G>A	ENST00000366691.3	+	1	805	c.139G>A	c.(139-141)Ggg>Agg	p.G47R		NM_021205.5	NP_067028.1	Q7L0Q8	RHOU_HUMAN	ras homolog family member U	47	Gly-rich.				regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				gggtgccgaggggcgcggcgT	0.776000													15	23					0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96731866	96731866	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:96731866G>A	ENST00000260682.6	+	6	837	c.825G>A	c.(823-825)aaG>aaA	p.K275K		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	275					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CCTAGGAAAAGCACAACCAAC	0.353000													20	73					0	0	1	0	0
CDCA7L	55536	broad.mit.edu	37	7	21945200	21945200	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:21945200G>A	ENST00000406877.3	-	7	1250	c.971C>T	c.(970-972)cCa>cTa	p.P324L	CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_Missense_Mutation_p.P290L|CDCA7L_ENST00000373934.4_Missense_Mutation_p.P278L	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	324					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						ATCCTCCACTGGCCGAAAAGA	0.398000													29	58					0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54686568	54686568	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:54686568G>A	ENST00000540264.2	-	2	1221	c.712C>T	c.(712-714)Cct>Tct	p.P238S	NFE2_ENST00000435572.2_Missense_Mutation_p.P238S|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Missense_Mutation_p.P238S|NFE2_ENST00000312156.4_Missense_Mutation_p.P238S			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	238					blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						TTGTCCGTAGGAAAAGGAATC	0.582000													11	41					0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7172373	7172373	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:7172373C>T	ENST00000341500.5	-	5	1235	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	INSR_ENST00000302850.5_Missense_Mutation_p.R399Q	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	399					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGCGTAGGATCGGCGGATTTT	0.493000													27	77					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470146	10470146	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:10470146G>A	ENST00000382483.3	-	4	1685	c.1462C>T	c.(1462-1464)Cag>Tag	p.Q488*		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	488					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCCCCTATCTGGGCAGAGGGG	0.716000													27	34					0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156381462	156381462	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:156381462C>T	ENST00000274532.2	-	2	420	c.364G>A	c.(364-366)Gat>Aat	p.D122N	TIMD4_ENST00000407087.3_Missense_Mutation_p.D122N	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	122	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATCTTTACATCGTTGAACCAG	0.507000													18	46					0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170216647	170216647	+	Missense_Mutation	SNP	G	G	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:170216647G>T	ENST00000231706.4	-	4	883	c.568C>A	c.(568-570)Ctt>Att	p.L190I	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	190						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AGAGCCAGAAGGTCTGGGTAT	0.493000													19	55					1.01871e-10	1.02604e-10	1	1	0
KIAA0753	9851	broad.mit.edu	37	17	6513321	6513321	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:6513321G>A	ENST00000361413.3	-	9	2063	c.1705C>T	c.(1705-1707)Cct>Tct	p.P569S	KIAA0753_ENST00000542606.1_Missense_Mutation_p.P270S|KIAA0753_ENST00000589033.1_Missense_Mutation_p.P25S|KIAA0753_ENST00000572370.1_Missense_Mutation_p.P270S	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	569						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TACCATTTAGGAGACGCTGGT	0.458000													27	103					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50094366	50094366	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:50094366C>T	ENST00000376042.1	+	12	4385	c.4087C>T	c.(4087-4089)Cac>Tac	p.H1363Y	CCNB3_ENST00000376038.1_Missense_Mutation_p.H259Y|CCNB3_ENST00000276014.7_Missense_Mutation_p.H1363Y|CCNB3_ENST00000348603.2_Missense_Mutation_p.H259Y			Q8WWL7	CCNB3_HUMAN	cyclin B3	1363					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CAAGTATTCTCACCCGTAAGT	0.433000													59	68					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343782	248343782	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:248343782C>T	ENST00000359682.2	+	1	495	c.495C>T	c.(493-495)tcC>tcT	p.S165S		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCACATTTTCCTTCTCCTTTT	0.423000													155	275					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25427460	25427460	+	RNA	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:25427460C>T	ENST00000424208.1	+	0	257					NR_003305.1																						GCCCTGGTCTCCTGCATTGAG	0.607000													15	85					0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101911622	101911622	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:101911622C>T	ENST00000537097.1	+	6	3594	c.2781C>T	c.(2779-2781)tcC>tcT	p.S927S	GPRASP1_ENST00000361600.5_Silent_p.S927S|GPRASP1_ENST00000444152.1_Silent_p.S927S|GPRASP1_ENST00000415986.1_Silent_p.S927S|RP4-769N13.7_ENST00000602441.1_RNA	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	927	Glu-rich.|OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GCTGTGTATCCAAGCCAGAGG	0.473000													21	45					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													4	132					0	0	1	0	0
ZRSR1	7310	broad.mit.edu	37	5	112228217	112228217	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:112228217G>A	ENST00000391338.1	+	1	905	c.881G>A	c.(880-882)gGa>gAa	p.G294E	REEP5_ENST00000474542.2_Intron|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000379638.4_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000545426.1_3'UTR|REEP5_ENST00000504247.1_Intron	NM_001204199.1	NP_001191128.1			zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1											breast(1)|skin(1)|stomach(2)	4						CTGTTTAACGGACGATGGTAT	0.463000													26	168					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													6	43					0	0	1	0	0
INHBB	3625	broad.mit.edu	37	2	121107067	121107067	+	Missense_Mutation	SNP	C	C	T	rs144228850		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:121107067C>T	ENST00000295228.3	+	2	887	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	281					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				GGTGCAGGCTCGGCTGGGCGA	0.642000													20	84					0	0	1	0	0
OR1D5	8386	broad.mit.edu	37	17	2966538	2966538	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:2966538G>A	ENST00000575751.1	-	1	363	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122C(2)		kidney(1)|lung(10)	11						GCCACATAGCGATCATACGCC	0.567000													9	45					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31570434	31570434	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:31570434G>A	ENST00000379416.3	-	29	3278	c.3230C>T	c.(3229-3231)cCc>cTc	p.P1077L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1077					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GGCAGCCGTGGGAGAGGTGTT	0.567000													26	85					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117672446	117672446	+	Silent	SNP	G	G	A	rs41413747	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:117672446G>A	ENST00000317775.6	-	21	3844	c.3159C>T	c.(3157-3159)atC>atT	p.I1053I	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.I1087I	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1053	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCAGCCGCTCGATCAGGGCAT	0.627000													14	35					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107005420	107005420	+	Missense_Mutation	SNP	C	C	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:107005420C>A	ENST00000369701.3	+	21	3216	c.2989C>A	c.(2989-2991)Cat>Aat	p.H997N	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	997						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GATTGCAGTTCATGGTAAGCC	0.488000													22	26					7.41877e-09	7.45873e-09	1	1	0
FAM189B	10712	broad.mit.edu	37	1	155217906	155217906	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:155217906G>A	ENST00000361361.2	-	11	2277	c.1768C>T	c.(1768-1770)Cgt>Tgt	p.R590C	FAM189B_ENST00000368368.3_Missense_Mutation_p.R572C|FAM189B_ENST00000350210.2_Missense_Mutation_p.R494C	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	590						integral to membrane	WW domain binding	p.R590C(1)		breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						TGGAGGAAACGAGTGACCAGG	0.607000													9	50					0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8115860	8115860	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:8115860C>T	ENST00000379328.3	+	6	1777	c.1209C>T	c.(1207-1209)tcC>tcT	p.S403S	GATA3_ENST00000346208.3_Silent_p.S402S|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	402					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						ACATGTCCTCCCTGAGCCACA	0.582000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						24	74					0	0	1	0	0
CD74	972	broad.mit.edu	37	5	149784693	149784693	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:149784693C>T	ENST00000353334.6	-	5	671	c.492G>A	c.(490-492)gaG>gaA	p.E164E	CD74_ENST00000377795.3_Intron|CD74_ENST00000009530.7_Silent_p.E164E|CD74_ENST00000524315.1_Intron	NM_001025159.2|NM_004355.3	NP_001020330.1|NP_004346.1	P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	164					antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCTCAGGTTCTCCGGGAAGC	0.562000			T	ROS1	NSCLC								47	71					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28378750	28378750	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:28378750G>A	ENST00000337532.5	-	13	1249	c.973C>T	c.(973-975)Cgt>Tgt	p.R325C	MPP7_ENST00000540098.1_Missense_Mutation_p.R325C|MPP7_ENST00000375719.3_Missense_Mutation_p.R325C|MPP7_ENST00000375732.1_Missense_Mutation_p.R325C|MPP7_ENST00000445954.2_Missense_Mutation_p.R200C	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	325					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CTACTAAGACGAAAACTTTTT	0.318000													12	45					0	0	1	0	0
WFDC6	140870	broad.mit.edu	37	20	44163099	44163099	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:44163099C>T	ENST00000600168.1	-	4	528	c.441G>A	c.(439-441)caG>caA	p.Q147Q	WFDC6_ENST00000372670.3_3'UTR					WAP four-disulfide core domain 6											breast(1)|kidney(1)|large_intestine(2)|lung(2)	6		Myeloproliferative disorder(115;0.0122)				GAGCCAAATCCTGGAGGTTAT	0.493000													50	104					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559231	140559231	+	Missense_Mutation	SNP	C	C	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140559231C>A	ENST00000239444.2	+	1	1861	c.1616C>A	c.(1615-1617)tCc>tAc	p.S539Y		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		539	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACCGCGGCTCCCCGGCTTTG	0.672000													32	348					9.65021e-13	9.7313e-13	1	1	0
ADCY4	196883	broad.mit.edu	37	14	24793396	24793396	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:24793396G>A	ENST00000310677.4	-	17	2031	c.1918C>T	c.(1918-1920)Ctg>Ttg	p.L640L	ADCY4_ENST00000554068.2_Silent_p.L640L|ADCY4_ENST00000418030.2_Silent_p.L640L|ADCY4_ENST00000396747.3_Silent_p.L333L	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	640					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GGGCCTTTCAGGACACACCTC	0.627000													15	59					0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10777392	10777392	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:10777392C>T	ENST00000075503.3	-	8	1304	c.784G>A	c.(784-786)Gat>Aat	p.D262N		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	262	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						GCAGTGAGATCACTTTGCATC	0.473000										HNSCC(73;0.22)			33	145					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99548225	99548225	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:99548225G>A	ENST00000550693.2	-	1	299	c.46C>T	c.(46-48)Ccc>Tcc	p.P16S	ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000546568.1_Missense_Mutation_p.P16S|ANKS1B_ENST00000332712.7_Missense_Mutation_p.P16S|ANKS1B_ENST00000546960.1_Missense_Mutation_p.P16S|ANKS1B_ENST00000549558.2_Missense_Mutation_p.P16S|ANKS1B_ENST00000549025.2_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547446.1_Intron|ANKS1B_ENST00000549493.2_Missense_Mutation_p.P16S	NM_001204069.1|NM_001204070.1	NP_001190998.1|NP_001190999.1	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	0						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CCGTCCACGGGGTAATAGCGG	0.532000													11	55					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8620596	8620596	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:8620596C>T	ENST00000338257.8	-	2	355	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	30	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						ATGGCGTCTTCGGTGATCTGG	0.617000													18	73					0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63157006	63157006	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:63157006G>A	ENST00000449996.3	+	6	474	c.402G>A	c.(400-402)ggG>ggA	p.G134G	RGS9_ENST00000262406.9_Silent_p.G134G|RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000443584.3_Silent_p.G134G	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	134					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						AAAAGAAAGGGATTTTGGAAG	0.388000													16	64					0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9362376	9362376	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:9362376C>T	ENST00000456448.1	+	1	771	c.657C>T	c.(655-657)ttC>ttT	p.F219F		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TCATATATTTCATGGGTGCCA	0.423000													4	23					0	0	1	0	0
LSM10	84967	broad.mit.edu	37	1	36859538	36859538	+	Missense_Mutation	SNP	G	G	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:36859538G>T	ENST00000315732.2	-	2	342	c.193C>A	c.(193-195)Cat>Aat	p.H65N	LSM10_ENST00000476041.1_5'UTR	NM_032881.1	NP_116270.1	Q969L4	LSM10_HUMAN	LSM10, U7 small nuclear RNA associated	65					histone mRNA metabolic process|mRNA processing|RNA splicing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	Cajal body|U7 snRNP	histone pre-mRNA DCP binding|protein binding			upper_aerodigestive_tract(1)|urinary_tract(1)	2		Myeloproliferative disorder(586;0.0393)				TTGACCTGATGCCCCCAACGG	0.572000													17	54					4.7546e-09	4.78307e-09	1	1	0
OR10J3	441911	broad.mit.edu	37	1	159284287	159284287	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:159284287G>A	ENST00000332217.5	-	1	162	c.163C>T	c.(163-165)Cat>Tat	p.H55Y		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H55Y(1)|p.H55D(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GTGTGAAGATGATGGTCCAGG	0.468000													134	136					0	0	1	0	0
THOC5	8563	broad.mit.edu	37	22	29908045	29908045	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:29908045C>T	ENST00000490103.1	-	18	1884	c.1762G>A	c.(1762-1764)Ggg>Agg	p.G588R	THOC5_ENST00000397873.2_Missense_Mutation_p.G588R|THOC5_ENST00000397872.1_Missense_Mutation_p.G588R|THOC5_ENST00000397871.1_Missense_Mutation_p.G588R	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	588					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTTTTCTCCCCTTTCCAGTTC	0.582000													13	35					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10317785	10317785	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:10317785G>A	ENST00000403437.2	-	10	916	c.822C>T	c.(820-822)tcC>tcT	p.S274S	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	274	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AAGTAACTCTGGACTTTTCTA	0.348000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				4	14					0	0	1	0	0
PAX2	5076	broad.mit.edu	37	10	102541064	102541064	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:102541064C>T	ENST00000370296.2	+	5	1108	c.558C>T	c.(556-558)tcC>tcT	p.S186S	PAX2_ENST00000361791.3_Silent_p.S186S|PAX2_ENST00000556085.1_Silent_p.S185S|PAX2_ENST00000355243.3_Silent_p.S186S|PAX2_ENST00000553492.1_3'UTR|PAX2_ENST00000428433.1_Silent_p.S186S			Q02962	PAX2_HUMAN	paired box 2	186					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GATCCTACTCCATCAATGGGA	0.557000													35	111					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56149244	56149244	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:56149244G>A	ENST00000361673.3	-	13	6537	c.6324C>T	c.(6322-6324)tcC>tcT	p.S2108S		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2108	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGAAGGTCATGGAACAGTTGC	0.378000													16	58					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101924127	101924127	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:101924127C>T	ENST00000437600.4	+	20	2142	c.1790C>T	c.(1789-1791)cCc>cTc	p.P597L	CUX1_ENST00000393824.3_Missense_Mutation_p.P560L|CUX1_ENST00000292538.4_Missense_Mutation_p.P599L|CUX1_ENST00000425244.2_Missense_Mutation_p.P553L|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Missense_Mutation_p.P583L	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	186					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGCTTGAGTCCCTGGGACAAG	0.642000													11	42					0	0	1	0	0
GGH	8836	broad.mit.edu	37	8	63939747	63939747	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:63939747G>A	ENST00000260118.6	-	4	755	c.353C>T	c.(352-354)tCc>tTc	p.S118F	GGH_ENST00000518113.1_5'UTR	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	118	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	TACCTGTATGGACAAGTTATA	0.368000													27	76					0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27240231	27240231	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:27240231G>A	ENST00000577226.1	-	9	1704	c.1358C>T	c.(1357-1359)cCt>cTt	p.P453L	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000332830.4_Missense_Mutation_p.P453L|PHF12_ENST00000268756.3_Missense_Mutation_p.P453L			Q96QT6	PHF12_HUMAN	PHD finger protein 12	453	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CCAATGCGAAGGCATCTGCTT	0.498000													25	139					0	0	1	0	0
IMP4	92856	broad.mit.edu	37	2	131103684	131103684	+	Splice_Site	SNP	C	C	T	rs147137797		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:131103684C>T	ENST00000259239.3	+	7	1396	c.689_splice	c.e7+1	p.R230_splice	IMP4_ENST00000409935.1_Splice_Site_p.R230_splice	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)	230	Brix.				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					CATATCATTCCGGTGGGTCCA	0.592000													17	60					0	0	1	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227509	56227509	+	Missense_Mutation	SNP	C	C	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:56227509C>G	ENST00000341744.3	-	4	783	c.464G>C	c.(463-465)gGg>gCg	p.G155A	PMEPA1_ENST00000395814.1_Missense_Mutation_p.G105A|PMEPA1_ENST00000265626.4_Missense_Mutation_p.G105A|PMEPA1_ENST00000347215.4_Missense_Mutation_p.G120A|PMEPA1_ENST00000395816.3_Missense_Mutation_p.G105A	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	155					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GGGCTCCTCCCCGTCTGACAG	0.692000													4	56					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237664159	237664159	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:237664159C>T	ENST00000366574.2	+	21	2669	c.2352C>T	c.(2350-2352)atC>atT	p.I784I	RYR2_ENST00000542537.1_Silent_p.I768I|RYR2_ENST00000360064.6_Silent_p.I782I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	784	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTTCAACATCGATGGCCTCT	0.403000													17	180					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41385213	41385213	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr21:41385213C>T	ENST00000400454.1	-	33	6264	c.5787G>A	c.(5785-5787)ttG>ttA	p.L1929L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1929				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCTGAGGTTCCAAGCATGCTT	0.572000													10	39					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126240210	126240210	+	Missense_Mutation	SNP	A	A	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:126240210A>C	ENST00000394329.3	+	1	2657	c.2644A>C	c.(2644-2646)Aca>Cca	p.T882P		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	882	Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGTTAACATAACAGTTAAGGA	0.453000													12	36					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166892578	166892578	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:166892578C>T	ENST00000423058.2	-	16	3426	c.3409G>A	c.(3409-3411)Gat>Aat	p.D1137N	SCN1A_ENST00000409050.1_Missense_Mutation_p.D1109N|SCN1A_ENST00000375405.3_Missense_Mutation_p.D1126N|SCN1A_ENST00000303395.4_Missense_Mutation_p.D1137N|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1137						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCTTCCAGATCCGATTCACTA	0.363000													16	85					0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85478742	85478742	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:85478742G>A	ENST00000394573.1	+	15	1776	c.1574G>A	c.(1573-1575)tGg>tAg	p.W525*	SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537216.1_Nonsense_Mutation_p.W525*|SLC28A1_ENST00000286749.3_Nonsense_Mutation_p.W525*|SLC28A1_ENST00000537624.1_Nonsense_Mutation_p.W525*	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	525					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGGAAGCAGTGGATCTCCGTG	0.637000													29	98					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	651188	651188	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:651188G>A	ENST00000255622.6	+	10	1349	c.1306G>A	c.(1306-1308)Gac>Aac	p.D436N	PDE6B_ENST00000429163.2_Missense_Mutation_p.D157N|PDE6B_ENST00000496514.1_Missense_Mutation_p.D436N	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	436					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CGACACCTACGACAAGATGAA	0.607000													23	43					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141708471	141708471	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:141708471G>A	ENST00000475668.2	+	3	347	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	MGAM_ENST00000549489.2_Missense_Mutation_p.R98Q			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	98	P-type 1.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.R98Q(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAATTGGAACGAATTAATTGC	0.403000													47	42					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2622102	2622102	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:2622102G>A	ENST00000399655.1	+	9	1607	c.1342G>A	c.(1342-1344)Gat>Aat	p.D448N	CACNA1C_ENST00000399597.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000347598.4_Missense_Mutation_p.D448N|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D448N|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D448N|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D448N|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D448N|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D448N	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	448					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGAAGACATCGATCCTGAGAA	0.567000													7	19					0	0	1	0	0
ZNF20	7568	broad.mit.edu	37	19	12243715	12243715	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:12243715C>T	ENST00000334213.5	-	4	1510	c.1286G>A	c.(1285-1287)gGa>gAa	p.G429E	ZNF20_ENST00000600335.1_Intron|ZNF625-ZNF20_ENST00000430024.1_3'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						GAATGCTTTTCCACATTGCTT	0.403000													11	43					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20790147	20790147	+	Missense_Mutation	SNP	A	A	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:20790147A>C	ENST00000359062.3	+	9	2155	c.2115A>C	c.(2113-2115)agA>agC	p.R705S	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	705					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ATATAGGAAGAAAATGTGGCC	0.343000													7	20					0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8731916	8731916	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:8731916C>T	ENST00000311434.9	-	11	1520	c.1281G>A	c.(1279-1281)ctG>ctA	p.L427L	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	427					platelet activation	cytosol											CCAGGCGCCCCAGCATCCTGT	0.721000													11	30					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139209810	139209810	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:139209810G>A	ENST00000395297.1	-	8	942	c.772C>T	c.(772-774)Cac>Tac	p.H258Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	258										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACCAGGAAGTGGAGACGGAGA	0.607000										HNSCC(54;0.14)			26	59					0	0	1	0	0
INSC	387755	broad.mit.edu	37	11	15212337	15212337	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:15212337C>T	ENST00000379554.3	+	6	857	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S	INSC_ENST00000528567.1_Missense_Mutation_p.P224S|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000379556.3_Missense_Mutation_p.P224S|INSC_ENST00000525218.1_Missense_Mutation_p.P224S|INSC_ENST00000424273.1_Missense_Mutation_p.P224S|INSC_ENST00000530161.1_Missense_Mutation_p.P224S	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	271					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GGAGGGGGCTCCCTTGTGCCG	0.517000													31	89					0	0	1	0	0
MMD2	221938	broad.mit.edu	37	7	4949592	4949592	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:4949592G>A	ENST00000404774.3	-	6	723	c.529C>T	c.(529-531)Ctt>Ttt	p.L177F	MMD2_ENST00000406755.1_Intron|MMD2_ENST00000401401.3_Intron	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	177						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		CTGGCAGGAAGACAAGCCGTG	0.577000													13	67					0	0	1	0	0
TCF7L2	6934	broad.mit.edu	37	10	114925411	114925411	+	Missense_Mutation	SNP	C	C	T	rs61724286		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:114925411C>T	ENST00000545257.1	+	15	2047	c.1540C>T	c.(1540-1542)Ccg>Tcg	p.P514S	TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000536810.1_Missense_Mutation_p.P497S|TCF7L2_ENST00000543371.1_Missense_Mutation_p.P497S|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000355995.4_Missense_Mutation_p.P514S|TCF7L2_ENST00000369389.1_3'UTR|TCF7L2_ENST00000542695.1_Missense_Mutation_p.P230S|TCF7L2_ENST00000369397.4_Missense_Mutation_p.P491S			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	514					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TCCCCCCTCCCCGAACCTGCT	0.597000			T	VTI1A	colorectal								35	135					0	0	1	0	0
SNX32	254122	broad.mit.edu	37	11	65618258	65618258	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:65618258G>A	ENST00000308342.6	+	6	960	c.535G>A	c.(535-537)Gga>Aga	p.G179R		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	179					cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		GGAGCTCCTCGGAGGGTTTCT	0.587000													11	28					0	0	1	0	0
LTA	4049	broad.mit.edu	37	6	31540580	31540580	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:31540580C>T	ENST00000454783.1	+	2	319	c.61C>T	c.(61-63)Ctt>Ttt	p.L21F	LTA_ENST00000418386.2_Missense_Mutation_p.L21F	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	21					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	ACACCTCCTCCTTCTGGGGCT	0.612000													21	104					0	0	1	0	0
ADIPOQ	9370	broad.mit.edu	37	3	186572002	186572002	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:186572002G>A	ENST00000412955.2	+	3	385	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	ADIPOQ_ENST00000320741.2_Missense_Mutation_p.E82K|ADIPOQ_ENST00000444204.2_Missense_Mutation_p.E82K|ADIPOQ-AS1_ENST00000422718.1_RNA			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	82	Collagen-like.				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		AGACATCGGTGAAACCGGAGT	0.507000													16	33					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179438227	179438227	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:179438227G>A	ENST00000589042.1	-	326	72856	c.72632C>T	c.(72631-72633)tCa>tTa	p.S24211L	TTN_ENST00000342175.6_Missense_Mutation_p.S15338L|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S21643L|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S15271L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S22570L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S15146L|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22570	Ig-like 121.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S15338L(1)|p.S21641L(1)|p.S15146L(1)|p.S15271L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACAGGCTCTGATTCCAGTGG	0.443000													39	81					0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077647	19077647	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:19077647G>A	ENST00000329773.2	-	2	390	c.303C>T	c.(301-303)ttC>ttT	p.F101F		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	101					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AGAAGCTAGGGAAATTGATGG	0.557000													22	75					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154026786	154026786	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:154026786C>T	ENST00000368559.3	-	25	3472	c.3401G>A	c.(3400-3402)gGg>gAg	p.G1134E	NUP210L_ENST00000368553.1_Missense_Mutation_p.G67E|NUP210L_ENST00000271854.3_Missense_Mutation_p.G1134E	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1134						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AACAATCTTCCCTGTAACTTG	0.473000													66	85					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371488	240371488	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:240371488G>A	ENST00000319653.9	+	5	3606	c.3376G>A	c.(3376-3378)Gga>Aga	p.G1126R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1126	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCTCTACCCGGAGCGGGCAT	0.721000													5	43					0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26691222	26691222	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:26691222C>T	ENST00000436292.1	-	4	935	c.815G>A	c.(814-816)cGa>cAa	p.R272Q	ZNF683_ENST00000374204.1_Missense_Mutation_p.R272Q|ZNF683_ENST00000349618.3_Missense_Mutation_p.R272Q|ZNF683_ENST00000403843.1_Missense_Mutation_p.R272Q			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		ACCTGGATTTCGGGCCTGGGA	0.652000													18	67					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25026685	25026685	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr13:25026685C>T	ENST00000381989.3	-	24	2978	c.2873G>A	c.(2872-2874)cGa>cAa	p.R958Q		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	958	VWFA.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GCTAAGATATCGGAGTGTTTT	0.493000													27	89					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179562937	179562937	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:179562937G>A	ENST00000444136.1	+	3	825	c.575G>A	c.(574-576)aGa>aAa	p.R192K	TDRD5_ENST00000294848.8_Missense_Mutation_p.R192K|TDRD5_ENST00000367614.1_Missense_Mutation_p.R192K	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	192	Lotus/OST-HTH 2.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GAGCAGACCAGAGCAGGTTCT	0.433000													6	83					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44573117	44573117	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:44573117C>T	ENST00000289547.4	-	8	2377	c.2322G>A	c.(2320-2322)ctG>ctA	p.L774L	NPC1L1_ENST00000423141.1_3'UTR|NPC1L1_ENST00000546276.1_Silent_p.L774L|NPC1L1_ENST00000381160.3_Silent_p.L774L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	774	SSD.				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GGCCAGAGGTCAGGGCAAAGG	0.637000													31	69					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161010736	161010736	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:161010736C>T	ENST00000447678.1	-	25	3916	c.3796G>A	c.(3796-3798)Gag>Aag	p.E1266K	LPA_ENST00000316300.5_Missense_Mutation_p.E1266K	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3774	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGGCTTTGCTCCGTTGGTGCT	0.448000													17	34					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													4	131					0	0	1	0	0
BARX2	8538	broad.mit.edu	37	11	129306795	129306795	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:129306795G>A	ENST00000281437.4	+	2	433	c.337G>A	c.(337-339)Ggc>Agc	p.G113S	BARX2_ENST00000526127.1_5'UTR	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	113										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		GGCCCCAGGGGGCGAGGCCCT	0.682000													10	22					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38797432	38797432	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:38797432C>T	ENST00000449082.2	-	10	1307	c.1308G>A	c.(1306-1308)ggG>ggA	p.G436G		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	436					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTGTGTCAATCCCTAGTGCTG	0.498000													21	73					0	0	1	0	0
S100A8	6279	broad.mit.edu	37	1	153362944	153362944	+	Missense_Mutation	SNP	T	T	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:153362944T>A	ENST00000368733.3	-	2	237	c.68A>T	c.(67-69)aAg>aTg	p.K23M	S100A8_ENST00000477801.1_5'UTR|S100A8_ENST00000368732.1_Missense_Mutation_p.K23M	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	23	EF-hand 1.				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAAATTCCCCTTTATCAGGGA	0.532000													145	231					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61830697	61830697	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:61830697G>A	ENST00000280772.1	-	37	10133	c.9942C>T	c.(9940-9942)gtC>gtT	p.V3314V	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3314					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTGAATCACTGACGTCTGCCC	0.438000													21	94					0	0	1	0	0
SGCA	6442	broad.mit.edu	37	17	48246470	48246470	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:48246470G>A	ENST00000262018.3	+	6	638	c.602G>A	c.(601-603)gGt>gAt	p.G201D	SGCA_ENST00000451235.2_Missense_Mutation_p.G99D|SGCA_ENST00000344627.6_Intron|SGCA_ENST00000543315.1_Intron|SGCA_ENST00000513942.1_Intron	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	201					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding	p.G201D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						ATTAAGGTGGGTTCTGCCTCA	0.577000											OREG0024558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	81					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49032908	49032908	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:49032908C>T	ENST00000226432.4	+	11	1622	c.1439C>T	c.(1438-1440)aCc>aTc	p.T480I	CWH43_ENST00000513409.1_Missense_Mutation_p.T453I	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	480					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						AATGACTTAACCATGTGGCTA	0.418000													34	90					0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51133351	51133351	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:51133351G>A	ENST00000338916.4	-	3	1385	c.752C>T	c.(751-753)cCt>cTt	p.P251L	SYT3_ENST00000600079.1_Missense_Mutation_p.P251L|SYT3_ENST00000593901.1_Missense_Mutation_p.P251L|SYT3_ENST00000544769.1_Missense_Mutation_p.P251L	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	251						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GGGCAGGGCAGGTGGCCGCTC	0.672000													11	41					0	0	1	0	0
HIST2H2BB	338391	broad.mit.edu	37	1	149375130	149375130	+	RNA	SNP	T	T	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:149375130T>C	ENST00000415338.1	-	0	1061																											TTTAAGTTTTTCCACTGGAAT	0.453000													18	226					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10310211	10310211	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:10310211G>A	ENST00000403437.2	-	18	2145	c.2051C>T	c.(2050-2052)cCt>cTt	p.P684L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	684	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGTCTTACCAGGAGTTTTGGT	0.383000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				7	41					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249970	140249970	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140249970G>A	ENST00000398640.2	+	1	1282	c.1282G>A	c.(1282-1284)Gat>Aat	p.D428N	PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTGCGCGGGATGGGGGTTC	0.622000													44	189					0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21715879	21715879	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:21715879G>A	ENST00000261195.2	-	7	1289	c.1035C>T	c.(1033-1035)tcC>tcT	p.S345S		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	345					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCCTGGATAAGGATTCTAGGA	0.393000													26	80					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284195	152284195	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:152284195G>A	ENST00000368799.1	-	3	3202	c.3167C>T	c.(3166-3168)tCt>tTt	p.S1056F	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1056	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGACTGCAGATGAAGCTTG	0.557000									Ichthyosis				422	631					0	0	1	0	0
ARGFX	503582	broad.mit.edu	37	3	121305409	121305409	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:121305409C>T	ENST00000334384.3	+	4	920	c.910C>T	c.(910-912)Cag>Tag	p.Q304*		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	304						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		CCTGGAATTCCAGAAAACCTC	0.433000													20	57					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73558935	73558935	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:73558935C>T	ENST00000224721.6	+	50	7142	c.7137C>T	c.(7135-7137)gcC>gcT	p.A2379A	CDH23_ENST00000398788.3_Silent_p.A134A|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2374	Cadherin 22.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCGTGAGGGCCTCAGACAACG	0.577000													15	49					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50589250	50589250	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:50589250G>A	ENST00000262794.5	+	21	2897	c.2814G>A	c.(2812-2814)ttG>ttA	p.L938L	MOV10L1_ENST00000395843.1_Intron|MOV10L1_ENST00000395852.1_Silent_p.L65L|MOV10L1_ENST00000395858.3_Silent_p.L938L|MOV10L1_ENST00000545383.1_Silent_p.L938L|MOV10L1_ENST00000540615.1_Silent_p.L918L|MOV10L1_ENST00000354853.2_Intron	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	938					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGTCCTTTTTGGAACGGCTGA	0.582000													7	45					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981578	7981578	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:7981578C>T	ENST00000328600.2	-	2	1742	c.1581G>A	c.(1579-1581)tcG>tcA	p.S527S		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	527							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTCCAAGTTCGAGAAGCTGT	0.443000													12	45					0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160662618	160662618	+	Splice_Site	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:160662618C>T	ENST00000366953.3	-	9	1647	c.1388_splice	c.e9-1	p.R463_splice	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	463			R -> K (in dbSNP:rs3907239).		body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CGCCAAGATTCCTAGAATGCA	0.443000													4	11					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55782888	55782888	+	Missense_Mutation	SNP	G	G	A	rs34553661		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:55782888G>A	ENST00000373965.2	-	20	2705	c.2311C>T	c.(2311-2313)Cgt>Tgt	p.R771C	PCDH15_ENST00000361849.3_Missense_Mutation_p.R764C|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.R764C|PCDH15_ENST00000414778.1_Missense_Mutation_p.R769C|PCDH15_ENST00000373955.1_Missense_Mutation_p.R764C|PCDH15_ENST00000395432.2_Missense_Mutation_p.R727C|PCDH15_ENST00000395430.1_Missense_Mutation_p.R764C|PCDH15_ENST00000395438.1_Missense_Mutation_p.R764C|PCDH15_ENST00000395445.1_Missense_Mutation_p.R771C|PCDH15_ENST00000409834.1_Missense_Mutation_p.R375C|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.R742C|PCDH15_ENST00000437009.1_Missense_Mutation_p.R693C	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	764	Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GATGTGATACGAAAAAGATTA	0.368000										HNSCC(58;0.16)			14	31					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38674644	38674644	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:38674644G>A	ENST00000413689.1	-	2	348	c.155C>T	c.(154-156)cCc>cTc	p.P52L	SCN5A_ENST00000333535.4_Missense_Mutation_p.P52L|SCN5A_ENST00000425664.1_Missense_Mutation_p.P52L|SCN5A_ENST00000449557.2_Missense_Mutation_p.P52L|SCN5A_ENST00000414099.2_Missense_Mutation_p.P52L|SCN5A_ENST00000451551.2_Missense_Mutation_p.P52L|SCN5A_ENST00000443581.1_Missense_Mutation_p.P52L|SCN5A_ENST00000423572.2_Missense_Mutation_p.P52L|SCN5A_ENST00000455624.2_Missense_Mutation_p.P52L|SCN5A_ENST00000450102.2_Missense_Mutation_p.P52L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	52					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTGGGGCCGGGGAGCCTCCTC	0.657000													5	20					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79366681	79366681	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:79366681C>T	ENST00000264895.6	+	42	6111	c.5671C>T	c.(5671-5673)Cgt>Tgt	p.R1891C	FRAS1_ENST00000325942.6_Missense_Mutation_p.R1891C	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1890					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGCAGGTGATCGTTTTGGCCC	0.393000													13	38					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57071176	57071176	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:57071176C>T	ENST00000436936.1	+	15	3006	c.2781C>T	c.(2779-2781)acC>acT	p.T927T	NLRC5_ENST00000539144.1_Silent_p.T927T|NLRC5_ENST00000308149.7_Silent_p.T927T|NLRC5_ENST00000262510.6_Silent_p.T927T			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	927					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CGTGCTGGACCCTGGCAGAGC	0.627000													14	51					0	0	1	0	0
IL37	27178	broad.mit.edu	37	2	113675236	113675236	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:113675236C>T	ENST00000263326.3	+	4	332	c.290C>T	c.(289-291)tCc>tTc	p.S97F	IL37_ENST00000352179.3_Missense_Mutation_p.S76F|IL37_ENST00000311328.2_Missense_Mutation_p.S71F|IL37_ENST00000353225.3_Missense_Mutation_p.S57F|IL37_ENST00000349806.3_Missense_Mutation_p.S36F	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	97					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						TTAGCCTCATCCTTGAGCTCA	0.493000													58	237					0	0	1	0	0
FAM198B	51313	broad.mit.edu	37	4	159076804	159076804	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:159076804G>A	ENST00000296530.8	-	3	1705	c.1084C>T	c.(1084-1086)Cat>Tat	p.H362Y	FAM198B_ENST00000585682.1_Missense_Mutation_p.H362Y|FAM198B_ENST00000589306.1_5'UTR|FAM198B_ENST00000393807.5_Missense_Mutation_p.H370Y	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	362						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GACCACTCATGATGATGTATT	0.418000													9	33					0	0	1	0	0
MEGF11	84465	broad.mit.edu	37	15	66250032	66250032	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:66250032G>A	ENST00000409699.2	-	10	1312	c.1140C>T	c.(1138-1140)acC>acT	p.T380T	MEGF11_ENST00000360698.4_Silent_p.T380T|MEGF11_ENST00000422354.1_Silent_p.T380T|MEGF11_ENST00000395625.2_Silent_p.T305T|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000288745.3_Silent_p.T305T			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	380						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CTGGCTGGCAGGTACAAGCTC	0.592000													9	36					0	0	1	0	0
ZNF30	90075	broad.mit.edu	37	19	35434798	35434798	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:35434798C>T	ENST00000439785.1	+	5	1375	c.931C>T	c.(931-933)Cat>Tat	p.H311Y	ZNF30_ENST00000426813.2_Missense_Mutation_p.H229Y|ZNF30_ENST00000601142.1_Missense_Mutation_p.H310Y|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000303586.7_Missense_Mutation_p.H311Y	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		TCAGAGAATTCATACTGGCGA	0.443000													20	54					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28796068	28796068	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:28796068C>T	ENST00000422425.2	+	21	1406	c.1362C>T	c.(1360-1362)atC>atT	p.I454I	PLB1_ENST00000327757.5_Silent_p.I443I|PLB1_ENST00000329020.6_Silent_p.I131I	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	443	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TTGCAGACATCCTCCGGGAAT	0.493000													4	19					0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93636963	93636963	+	Missense_Mutation	SNP	G	G	A	rs56071116		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:93636963G>A	ENST00000375754.4	+	9	1161	c.1013G>A	c.(1012-1014)aGa>aAa	p.R338K	SYK_ENST00000375747.1_Missense_Mutation_p.R315K|SYK_ENST00000375746.1_Missense_Mutation_p.R338K|SYK_ENST00000375751.4_Missense_Mutation_p.R315K	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	338	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GGCCCCCAGAGAGAAGCCCTA	0.562000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								98	144					0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2418402	2418402	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:2418402C>T	ENST00000449969.1	+	6	953	c.792C>T	c.(790-792)tgC>tgT	p.C264C	PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000419816.2_Silent_p.C291C|PLCH2_ENST00000378488.3_Silent_p.C291C|PLCH2_ENST00000378486.3_Silent_p.C291C|PLCH2_ENST00000288766.5_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	291					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TTGAGCCATGCCCAGAAAACA	0.632000													5	16					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77354858	77354858	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:77354858G>A	ENST00000451710.3	-	33	5517	c.5280C>T	c.(5278-5280)tcC>tcT	p.S1760S	TRPM6_ENST00000449912.2_Silent_p.S1751S|TRPM6_ENST00000376872.3_Silent_p.S711S|TRPM6_ENST00000361255.3_Silent_p.S1751S|TRPM6_ENST00000360774.1_Silent_p.S1756S|TRPM6_ENST00000376871.3_Silent_p.S593S|TRPM6_ENST00000376864.4_Silent_p.S1760S			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1756	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GAGACCAAGAGGACATGCTTT	0.488000													21	34					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32077661	32077661	+	Missense_Mutation	SNP	A	A	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:32077661A>C	ENST00000438447.1	+	19	4019	c.3631A>C	c.(3631-3633)Aca>Cca	p.T1211P	PDZD2_ENST00000282493.3_Missense_Mutation_p.T1211P			O15018	PDZD2_HUMAN	PDZ domain containing 2	1211					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CAGCCACCTCACAGAGAACCT	0.507000													8	69					0	0	1	0	0
RELB	5971	broad.mit.edu	37	19	45537541	45537541	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:45537541C>T	ENST00000221452.8	+	10	1397	c.1247C>T	c.(1246-1248)cCc>cTc	p.P416L	RELB_ENST00000540120.1_Missense_Mutation_p.P416L|RELB_ENST00000505236.1_Missense_Mutation_p.P413L	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	416	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CGGGGGATGCCCGACGTCCTT	0.547000													22	46					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112614442	112614442	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:112614442C>T	ENST00000550722.1	-	65	11385	c.10990G>A	c.(10990-10992)Gat>Aat	p.D3664N	HECTD4_ENST00000430131.2_Missense_Mutation_p.D3388N|HECTD4_ENST00000377560.5_Missense_Mutation_p.D3638N	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TCCTTTTCATCTGGTTTGCTC	0.483000													4	57					0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8608532	8608532	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:8608532C>T	ENST00000382480.2	+	6	1364	c.564C>T	c.(562-564)ttC>ttT	p.F188F	CPZ_ENST00000315782.6_Silent_p.F314F|CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000360986.4_Silent_p.F325F	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	325					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACCGAAATTTCCCGGACCTGA	0.647000													20	67					0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	78958543	78958543	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:78958543G>A	ENST00000370756.3	+	2	352	c.115G>A	c.(115-117)Gtg>Atg	p.V39M	PTGFR_ENST00000370757.3_Missense_Mutation_p.V39M|PTGFR_ENST00000370758.1_Missense_Mutation_p.V39M	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	39					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	CTTCATGACAGTGGGAATCTT	0.463000													21	73					0	0	1	0	0
MMACHC	25974	broad.mit.edu	37	1	45973169	45973169	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:45973169C>T	ENST00000401061.4	+	2	503	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L		NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	75							cobalamin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTCCGAATGCTGACTGACCC	0.607000													3	35					0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189012767	189012767	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:189012767C>T	ENST00000512729.1	-	7	1298	c.924G>A	c.(922-924)ctG>ctA	p.L308L	TRIML2_ENST00000326754.3_Silent_p.L333L	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	308	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		AGAGCCTTTTCAGAGGGGGGA	0.557000													45	189					0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205899030	205899030	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:205899030G>A	ENST00000367135.3	-	6	820	c.707C>T	c.(706-708)tCc>tTc	p.S236F	SLC26A9_ENST00000340781.4_Missense_Mutation_p.S236F|SLC26A9_ENST00000367134.2_Missense_Mutation_p.S236F	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	236						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AAAGACGATGGACCCTGGGCC	0.567000													8	67					0	0	1	0	0
BTN3A1	11119	broad.mit.edu	37	6	26409900	26409900	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:26409900G>A	ENST00000289361.6	+	5	1223	c.855G>A	c.(853-855)aaG>aaA	p.K285K	BTN3A1_ENST00000414912.2_Silent_p.K233K|BTN3A1_ENST00000476549.2_Silent_p.K285K|BTN3A1_ENST00000425234.2_Silent_p.K285K	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	285					lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GAAAGAAAAAGAGAGAGCAAG	0.502000													24	134					0	0	1	0	0
CDKL2	8999	broad.mit.edu	37	4	76551162	76551162	+	Missense_Mutation	SNP	T	T	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:76551162T>C	ENST00000429927.2	-	2	714	c.11A>G	c.(10-12)tAt>tGt	p.Y4C	CDKL2_ENST00000307465.4_Missense_Mutation_p.Y4C	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	4	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CAGGTTTTCATATTTTTCCAT	0.353000													17	77					0	0	1	0	0
WDR18	57418	broad.mit.edu	37	19	990989	990989	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:990989C>T	ENST00000251289.5	+	5	758	c.735C>T	c.(733-735)ttC>ttT	p.F245F	WDR18_ENST00000587001.2_Silent_p.F245F	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	245										endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGACCTCTTCACCTGGGTGA	0.652000													10	49					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154321393	154321393	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:154321393C>T	ENST00000368489.3	+	28	3471	c.3471C>T	c.(3469-3471)tcC>tcT	p.S1157S		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1143					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCACTGGCTCCCGGCGCTCCG	0.642000													6	50					0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150501930	150501930	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:150501930G>A	ENST00000484928.1	+	7	1263	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	TMEM176A_ENST00000461345.1_Missense_Mutation_p.E169K|TMEM176A_ENST00000004103.3_Missense_Mutation_p.E228K			Q96HP8	T176A_HUMAN	transmembrane protein 176A	228						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGACCAGAAGGAAATGTTGGA	0.522000													52	89					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81528669	81528669	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:81528669G>A	ENST00000548058.1	+	3	1441	c.531G>A	c.(529-531)atG>atA	p.M177I	ACSS3_ENST00000261206.3_Missense_Mutation_p.M176I			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	177						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						ACATGCCTATGATCCCACAGG	0.458000													12	29					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120998772	120998772	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:120998772G>A	ENST00000273666.6	+	19	2350	c.2079G>A	c.(2077-2079)cgG>cgA	p.R693R	STXBP5L_ENST00000492541.1_Silent_p.R693R|STXBP5L_ENST00000472879.1_Silent_p.R693R|STXBP5L_ENST00000471454.1_Silent_p.R693R|STXBP5L_ENST00000497029.1_Silent_p.R693R	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	693					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GACAACCACGGTCTCCTCGAA	0.388000													8	50					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20623061	20623061	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:20623061G>A	ENST00000525748.1	+	2	663	c.390G>A	c.(388-390)ggG>ggA	p.G130G		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	130					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GCCCGGAGGGGGATGCGAACG	0.677000													5	37					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34285417	34285417	+	Silent	SNP	G	G	A	rs146766790		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:34285417G>A	ENST00000373381.4	-	9	1397	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	367	CUB 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGTTGCAGGTGAACTGGACGC	0.592000													8	47					0	0	1	0	0
MGLL	11343	broad.mit.edu	37	3	127454583	127454583	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:127454583C>T	ENST00000398101.3	-	1	617	c.119G>A	c.(118-120)gGg>gAg	p.G40E	MGLL_ENST00000265052.5_Intron|MGLL_ENST00000453507.2_Intron|MGLL_ENST00000398104.1_Intron|MGLL_ENST00000434178.2_Intron			Q99685	MGLL_HUMAN	monoglyceride lipase	0					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						GTGCTCGCTCCCCGCCTTCTC	0.493000													27	124					0	0	1	0	0
NOP58	51602	broad.mit.edu	37	2	203149128	203149128	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:203149128C>T	ENST00000264279.5	+	5	584	c.358C>T	c.(358-360)Cgt>Tgt	p.R120C	NOP58_ENST00000467734.1_3'UTR	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	120					cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						GAGAGGAATTCGTTCACAAAT	0.358000													12	44					0	0	1	0	0
TREH	11181	broad.mit.edu	37	11	118532174	118532174	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:118532174C>T	ENST00000529101.1	-	7	707	c.662G>A	c.(661-663)cGg>cAg	p.R221Q	TREH_ENST00000397925.1_Missense_Mutation_p.R190Q|TREH_ENST00000264029.4_Missense_Mutation_p.R221Q|TREH_ENST00000525958.1_Missense_Mutation_p.R190Q|TREH_ENST00000530256.1_Missense_Mutation_p.R98Q			O43280	TREA_HUMAN	trehalase (brush-border membrane glycoprotein)	221					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity			NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		GGGCTGGCTCCGCTGCAGGTA	0.597000													8	22					0	0	1	0	0
NPY4R	5540	broad.mit.edu	37	10	47087479	47087479	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:47087479C>T	ENST00000374312.1	+	3	1115	c.696C>T	c.(694-696)gtC>gtT	p.V232V	NPY4R_ENST00000395716.1_Silent_p.V232V	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		TCATCCTGGTCTGTTATGCAC	0.602000													15	99					0	0	1	0	0
RNF152	220441	broad.mit.edu	37	18	59483667	59483667	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:59483667C>T	ENST00000312828.3	-	2	1129	c.30G>A	c.(28-30)ctG>ctA	p.L10L		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	10					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				TCTGACATTCCAGCAGAGAGT	0.592000													32	114					0	0	1	0	0
KIF9	64147	broad.mit.edu	37	3	47289520	47289520	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:47289520G>A	ENST00000335044.2	-	11	1473	c.1116C>T	c.(1114-1116)atC>atT	p.I372I	KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000265529.3_Silent_p.I372I|KIF9_ENST00000444589.2_Silent_p.I372I|KIF9_ENST00000352910.4_Silent_p.I279I|KIF9_ENST00000452770.2_Silent_p.I372I	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	372					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GGCTGTCATGGATAGCCAGCT	0.572000													33	193					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502505	140502505	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140502505G>A	ENST00000194152.1	+	1	925	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		309	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTGGATTTCGAAAAAATTAA	0.358000													40	162					0	0	1	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75558041	75558041	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:75558041G>A	ENST00000604729.1	+	20	4303	c.4006G>A	c.(4006-4008)Gat>Aat	p.D1336N	ZSWIM8_ENST00000605216.1_Missense_Mutation_p.D1331N|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.D1336N|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.D1331N|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.D1298N					zinc finger, SWIM-type containing 8																		AGAATGCTGGGATGGGCACCT	0.602000													8	37					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238285621	238285621	+	Missense_Mutation	SNP	C	C	T	rs112172548		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:238285621C>T	ENST00000295550.4	-	7	3316	c.2864G>A	c.(2863-2865)cGt>cAt	p.R955H	COL6A3_ENST00000409809.1_Missense_Mutation_p.R749H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R749H|COL6A3_ENST00000392003.2_Missense_Mutation_p.R548H|COL6A3_ENST00000346358.4_Missense_Mutation_p.R755H|COL6A3_ENST00000347401.3_Missense_Mutation_p.R754H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R348H|COL6A3_ENST00000392004.3_Missense_Mutation_p.R749H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	955	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCCATCCACACGGTCAGATGA	0.542000													31	103					0	0	1	0	0
RSBN1	54665	broad.mit.edu	37	1	114308958	114308958	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:114308958G>A	ENST00000261441.5	-	7	2116	c.2053C>T	c.(2053-2055)Cag>Tag	p.Q685*	RSBN1_ENST00000369581.2_5'UTR	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	685						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTTTGAACTGATGAATGACA	0.428000													28	91					0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143632472	143632472	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:143632472C>T	ENST00000408955.2	+	1	214	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TCCTTCTGATCAGACTGGACA	0.517000													58	361					0	0	1	0	0
WBP2	23558	broad.mit.edu	37	17	73843582	73843582	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:73843582G>A	ENST00000591399.1	-	7	1065	c.641C>T	c.(640-642)cCc>cTc	p.P214L	WBP2_ENST00000590221.1_Missense_Mutation_p.P210L|WBP2_ENST00000344296.4_Missense_Mutation_p.P192L|WBP2_ENST00000433525.2_Missense_Mutation_p.P169L|WBP2_ENST00000585462.1_Missense_Mutation_p.P192L|WBP2_ENST00000254806.3_Missense_Mutation_p.P214L			Q969T9	WBP2_HUMAN	WW domain binding protein 2	214	Pro-rich.						protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGAGTGGAGGGGACATCGGG	0.687000													6	20					0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52848312	52848312	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:52848312G>A	ENST00000266041.4	-	22	2635	c.2539C>T	c.(2539-2541)Ctg>Ttg	p.L847L	ITIH4_ENST00000406595.1_Silent_p.L817L|ITIH4_ENST00000485816.1_Silent_p.L852L|ITIH4_ENST00000346281.5_Silent_p.L831L	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	847					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CAGAACAACAGGCCGATGGTC	0.597000													13	62					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108129775	108129775	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:108129775C>T	ENST00000273353.3	-	32	4266	c.4210G>A	c.(4210-4212)Gaa>Aaa	p.E1404K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1404						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ATTGCCAGTTCCTTCCTGAGA	0.537000													7	16					0	0	1	0	0
SCARB1	949	broad.mit.edu	37	12	125292381	125292381	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:125292381G>A	ENST00000339570.5	-	7	1131	c.935C>T	c.(934-936)tCc>tTc	p.S312F	SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000261693.6_Missense_Mutation_p.S312F|SCARB1_ENST00000415380.2_Missense_Mutation_p.S312F|SCARB1_ENST00000541205.1_Missense_Mutation_p.S271F|SCARB1_ENST00000546215.1_Missense_Mutation_p.S312F|SCARB1_ENST00000544327.1_Missense_Mutation_p.S258F|SCARB1_ENST00000376788.1_Missense_Mutation_p.S212F|SCARB1_ENST00000540495.1_Missense_Mutation_p.S275F	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	312					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	TGGGTAGATGGACCCGTTGGC	0.567000													18	66					0	0	1	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88248168	88248168	+	Missense_Mutation	SNP	A	A	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:88248168A>G	ENST00000357081.3	-	14	1568	c.1424T>C	c.(1423-1425)gTt>gCt	p.V475A	AGTPBP1_ENST00000376083.3_Missense_Mutation_p.V435A|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.V487A|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.V313A|AGTPBP1_ENST00000337006.4_3'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	475					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CTTCATTACAACTTTTCTTAA	0.368000													22	35					0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147284	26147284	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:26147284G>A	ENST00000331351.5	+	2	1478	c.1086G>A	c.(1084-1086)gtG>gtA	p.V362V	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	362					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GACTCATTGTGGACCCCGCCG	0.498000													17	104					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62202043	62202043	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:62202043G>A	ENST00000467148.1	-	2	526	c.457C>T	c.(457-459)Ctt>Ttt	p.L153F	HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CTTACCACAAGGACCTCACTG	0.682000													7	21					0	0	1	0	0
RCC1	1104	broad.mit.edu	37	1	28858691	28858691	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:28858691C>T	ENST00000373833.6	+	7	555	c.270C>T	c.(268-270)tcC>tcT	p.S90S	RCC1_ENST00000398958.2_Silent_p.S90S|RCC1_ENST00000373832.1_Silent_p.S90S|RCC1_ENST00000429051.1_3'UTR|RCC1_ENST00000373831.3_Silent_p.S121S			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	90					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTCTATTCCTTCGGCTGCA	0.567000													5	17					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165956887	165956887	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:165956887G>A	ENST00000360093.3	-	22	4382	c.3891C>T	c.(3889-3891)ctC>ctT	p.L1297L	SCN3A_ENST00000409101.3_Silent_p.L1248L|SCN3A_ENST00000283254.7_Silent_p.L1297L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1297						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TGATGGCACCGAGTTCTGAGT	0.388000													9	26					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179481277	179481277	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:179481277C>T	ENST00000589042.1	-	257	48465	c.48241G>A	c.(48241-48243)Gat>Aat	p.D16081N	TTN_ENST00000342175.6_Missense_Mutation_p.D7208N|TTN_ENST00000342992.6_Missense_Mutation_p.D13513N|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D7141N|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D14440N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D7016N|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14440	Ig-like 99.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCCATCATCATCAGGTGGT	0.433000													19	79					0	0	1	0	0
C14orf177	283598	broad.mit.edu	37	14	99183532	99183532	+	Missense_Mutation	SNP	C	C	T	rs143969442	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:99183532C>T	ENST00000325812.2	+	4	718	c.299C>T	c.(298-300)tCg>tTg	p.S100L		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	100										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				ATGTCTGCTTCGACCATCTCT	0.413000													11	58					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2705076	2705076	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:2705076G>A	ENST00000399655.1	+	20	2965	c.2700G>A	c.(2698-2700)acG>acA	p.T900T	CACNA1C_ENST00000399597.1_Silent_p.T900T|CACNA1C_ENST00000399629.1_Silent_p.T900T|CACNA1C_ENST00000399603.1_Silent_p.T900T|CACNA1C_ENST00000347598.4_Silent_p.T900T|CACNA1C_ENST00000399634.1_Silent_p.T900T|CACNA1C_ENST00000399637.1_Silent_p.T900T|CACNA1C_ENST00000399591.1_Silent_p.T900T|CACNA1C_ENST00000399617.1_Silent_p.T900T|CACNA1C_ENST00000399621.1_Silent_p.T900T|CACNA1C_ENST00000402845.3_Silent_p.T900T|CACNA1C_ENST00000327702.7_Silent_p.T900T|CACNA1C_ENST00000399641.1_Silent_p.T900T|CACNA1C_ENST00000399595.1_Silent_p.T900T|CACNA1C_ENST00000399638.1_Silent_p.T900T|CACNA1C_ENST00000335762.5_Silent_p.T925T|CACNA1C_ENST00000344100.3_Silent_p.T900T|CACNA1C_ENST00000480911.1_Silent_p.T900T|CACNA1C_ENST00000399644.1_Silent_p.T900T|CACNA1C_ENST00000399601.1_Silent_p.T900T|CACNA1C_ENST00000399606.1_Silent_p.T900T|CACNA1C_ENST00000399649.1_Silent_p.T900T|CACNA1C_ENST00000406454.3_Silent_p.T900T	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	900					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCAATGACACGATCTTCACCA	0.562000													18	59					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973462	29973462	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:29973462G>A	ENST00000378993.1	+	11	2289	c.1616G>A	c.(1615-1617)tGg>tAg	p.W539*	IL1RAPL1_ENST00000302196.4_Nonsense_Mutation_p.W539*	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	539	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GTCATTAAATGGCATGGACCA	0.428000													6	13					0	0	1	0	0
MYL12A	10627	broad.mit.edu	37	18	3253895	3253895	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:3253895C>T	ENST00000217652.3	+	3	585	c.190C>T	c.(190-192)Cca>Tca	p.P64S	MYL12A_ENST00000579226.1_Missense_Mutation_p.P64S|MYL12A_ENST00000580887.1_Missense_Mutation_p.P70S|MYL12A_ENST00000578611.1_Missense_Mutation_p.P64S|MYL12A_ENST00000536605.1_Missense_Mutation_p.P64S	NM_006471.2	NP_006462.1	P19105	ML12A_HUMAN	myosin, light chain 12A, regulatory, non-sarcomeric	64						myosin complex	calcium ion binding|protein binding			NS(1)|kidney(2)|large_intestine(2)	5						AGGGAAGAATCCAACTGATGA	0.343000													6	37					0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70070710	70070710	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:70070710C>T	ENST00000330891.5	-	7	1079	c.853G>A	c.(853-855)Gca>Aca	p.A285T	BEST3_ENST00000488961.1_Intron|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000331471.4_Missense_Mutation_p.A285T|BEST3_ENST00000553096.1_Missense_Mutation_p.A179T	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	285						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AGCCATCCTGCATAGAAGAAG	0.468000													26	115					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10940873	10940873	+	Missense_Mutation	SNP	A	A	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:10940873A>T	ENST00000314646.5	+	20	2526	c.2362A>T	c.(2362-2364)Act>Tct	p.T788S	DNM2_ENST00000585892.1_Missense_Mutation_p.T788S|DNM2_ENST00000408974.4_Missense_Mutation_p.T784S|DNM2_ENST00000389253.4_Missense_Mutation_p.T788S|DNM2_ENST00000355667.6_Missense_Mutation_p.T788S|DNM2_ENST00000359692.6_Missense_Mutation_p.T784S			P50570	DYN2_HUMAN	dynamin 2	788	Pro-rich.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GAGGGGCCCCACTCCAGGGCC	0.692000			"""F, N, Splice, Mis, O"""		ETP ALL								34	89					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238053213	238053213	+	Silent	SNP	C	C	T	rs138002250		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:238053213C>T	ENST00000366570.4	-	3	512	c.354G>A	c.(352-354)aaG>aaA	p.K118K	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	118					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CTGTAACCACCTTGTGTTCAG	0.567000													175	333					0	0	1	0	0
TNFSF13B	10673	broad.mit.edu	37	13	108922376	108922376	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr13:108922376G>A	ENST00000375887.4	+	1	311	c.133G>A	c.(133-135)Gga>Aga	p.G45R	TNFSF13B_ENST00000430559.1_Missense_Mutation_p.G45R|TNFSF13B_ENST00000542136.1_Missense_Mutation_p.G45R	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	45					cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)			CTCCAAAGACGGAAAGCTGCT	0.552000													56	178					0	0	1	0	0
INHBC	3626	broad.mit.edu	37	12	57828946	57828946	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:57828946G>A	ENST00000309668.2	+	1	404	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	INHBC_ENST00000550133.1_Missense_Mutation_p.E93K	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	93					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GGACAACAGGGAACAGGAATG	0.552000													11	24					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113169320	113169320	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:113169320C>T	ENST00000401783.2	-	38	8896	c.8560G>A	c.(8560-8562)Gag>Aag	p.E2854K	SVEP1_ENST00000297826.5_Missense_Mutation_p.E780K|SVEP1_ENST00000374469.1_Missense_Mutation_p.E2831K	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2854	Sushi 24.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TATTCAATCTCTTTTTGGAAT	0.522000													30	47					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36778804	36778804	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:36778804G>A	ENST00000416516.2	-	2	1837	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	449	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CGGGCTCCGGGAACTTCACAC	0.512000													15	46					0	0	1	0	0
VSIG2	23584	broad.mit.edu	37	11	124620744	124620744	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:124620744G>A	ENST00000403470.1	-	3	348	c.293C>T	c.(292-294)cCc>cTc	p.P98L	VSIG2_ENST00000326621.5_Missense_Mutation_p.P98L			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	98	Ig-like V-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		CACTGTGGGGGGGTTCTGAAG	0.532000													12	33					0	0	1	0	0
HTN1	3346	broad.mit.edu	37	4	70921242	70921242	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:70921242C>T	ENST00000511674.1	+	5	201	c.130C>T	c.(130-132)Cca>Tca	p.P44S	HTN1_ENST00000246896.3_Missense_Mutation_p.P44S			P15515	HIS1_HUMAN	histatin 1	44					biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6						TCGAGAATTTCCATTTTATGG	0.358000													10	30					0	0	1	0	0
WNT16	51384	broad.mit.edu	37	7	120979028	120979028	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:120979028G>A	ENST00000222462.2	+	4	1017	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	WNT16_ENST00000361301.2_Missense_Mutation_p.E233K	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	243					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					GTCTTCTTTTGAAAAGATTGG	0.433000													13	78					0	0	1	0	0
NUF2	83540	broad.mit.edu	37	1	163295964	163295964	+	Splice_Site	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:163295964G>A	ENST00000271452.3	+	2	402	c.123_splice	c.e2+1	p.K41_splice	NUF2_ENST00000490881.1_3'UTR|NUF2_ENST00000367900.3_Splice_Site_p.K41_splice|NUF2_ENST00000524800.1_Splice_Site_p.K41_splice	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	41	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					CAAATCCAAAGGTAAAAGGTG	0.373000													54	67					0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086436	100086436	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:100086436G>A	ENST00000423930.1	+	4	1251	c.1092G>A	c.(1090-1092)aaG>aaA	p.K364K	NYAP1_ENST00000454988.1_Silent_p.K307K|NYAP1_ENST00000300179.2_Silent_p.K364K			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	364	Pro-rich.																GCCACTCCAAGGAGCCAGCCG	0.682000													26	63					0	0	1	0	0
NR1I2	8856	broad.mit.edu	37	3	119526124	119526124	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:119526124G>A	ENST00000393716.2	+	2	1866	c.27G>A	c.(25-27)tgG>tgA	p.W9*	NR1I2_ENST00000337940.4_Nonsense_Mutation_p.W48*|NR1I2_ENST00000466380.1_Nonsense_Mutation_p.W9*	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	9					drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	p.W48C(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	AAGAAAGCTGGAACCATGCTG	0.502000													13	67					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122387351	122387351	+	Missense_Mutation	SNP	T	T	A	rs144902457		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:122387351T>A	ENST00000264357.5	+	3	758	c.466T>A	c.(466-468)Tac>Aac	p.Y156N	GRIA3_ENST00000541091.1_Missense_Mutation_p.Y140N|GRIA3_ENST00000371256.5_Missense_Mutation_p.Y156N|GRIA3_ENST00000542149.1_Missense_Mutation_p.Y156N|GRIA3_ENST00000371251.1_Missense_Mutation_p.Y156N|GRIA3_ENST00000479118.1_3'UTR	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	156					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TCTGGGTCATTACAAGTGGGA	0.473000													24	25					0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52003217	52003217	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:52003217C>T	ENST00000291707.3	-	2	820	c.765G>A	c.(763-765)agG>agA	p.R255R	SIGLEC12_ENST00000598614.1_Silent_p.R137R	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	255	Ig-like V-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGTTCCATTTCCTGCTTCCTC	0.552000													15	51					0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178769886	178769886	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:178769886C>T	ENST00000286063.5	-	3	1417	c.1100G>A	c.(1099-1101)gGa>gAa	p.G367E	PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Missense_Mutation_p.G9E|PDE11A_ENST00000358450.4_Missense_Mutation_p.G117E|PDE11A_ENST00000449286.2_Missense_Mutation_p.G9E	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	367	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TATGGCGATTCCACAAAATGG	0.373000									Primary Pigmented Nodular Adrenocortical Disease, Familial				11	37					0	0	1	0	0
DDB1	1642	broad.mit.edu	37	11	61094299	61094299	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:61094299G>A	ENST00000301764.7	-	5	1013	c.616C>T	c.(616-618)Cct>Tct	p.P206S	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	206	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TGTTTCCAAGGGCCCTTATTG	0.522000								Nucleotide excision repair (NER)					37	183					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31602309	31602309	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:31602309C>T	ENST00000376033.2	+	20	5144	c.4910C>T	c.(4909-4911)cCt>cTt	p.P1637L	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P1637L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1637	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCCTGAGTCCTTTTGAGGAT	0.572000													7	19					0	0	1	0	0
SFXN4	119559	broad.mit.edu	37	10	120914604	120914604	+	Silent	SNP	G	G	A	rs148648922		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:120914604G>A	ENST00000355697.2	-	11	721	c.702C>T	c.(700-702)gtC>gtT	p.V234V	SFXN4_ENST00000330036.6_Silent_p.V225V|SFXN4_ENST00000461438.1_5'UTR	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	234					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		AATGACCCAGGACATTGCCTT	0.463000													19	63					0	0	1	0	0
SH2D5	400745	broad.mit.edu	37	1	21048380	21048380	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:21048380C>T	ENST00000375031.1	-	9	1549	c.925G>A	c.(925-927)Gag>Aag	p.E309K	SH2D5_ENST00000444387.2_Missense_Mutation_p.E393K|SH2D5_ENST00000460804.1_5'UTR	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	309										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCCTGCTCCTCGTAGGTGGGG	0.672000													14	19					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313910	54313910	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:54313910C>T	ENST00000324134.6	-	3	1171	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K	NLRP12_ENST00000535162.1_Missense_Mutation_p.E335K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E335K|NLRP12_ENST00000354278.3_Missense_Mutation_p.E335K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E335K|NLRP12_ENST00000351894.4_Missense_Mutation_p.E335K|NLRP12_ENST00000345770.5_Missense_Mutation_p.E335K|NLRP12_ENST00000391772.1_Missense_Mutation_p.E335K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	335	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AAAGATAGCTCAGGGAGCAGC	0.582000													13	95					0	0	1	0	0
HID1	283987	broad.mit.edu	37	17	72947714	72947714	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:72947714G>A	ENST00000425042.2	-	19	2395	c.2318C>T	c.(2317-2319)cCt>cTt	p.P773L		NM_030630.2	NP_085133.1			HID1 domain containing																		GTACCAGACAGGGGGGTCCAC	0.617000													3	11					0	0	1	0	0
KDM1B	221656	broad.mit.edu	37	6	18208424	18208424	+	Missense_Mutation	SNP	A	A	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:18208424A>G	ENST00000388870.2	+	17	2097	c.1856A>G	c.(1855-1857)tAt>tGt	p.Y619C	KDM1B_ENST00000297792.5_Missense_Mutation_p.Y386C|KDM1B_ENST00000397244.1_Missense_Mutation_p.Y387C|KDM1B_ENST00000546309.2_Intron			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	618					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GGCACAGGGTATTCTGCACAA	0.453000													16	82					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58240625	58240625	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr13:58240625C>T	ENST00000377918.3	+	2	2615	c.2589C>T	c.(2587-2589)ccC>ccT	p.P863P		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	863					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCGCAGAGCCCAATTACATGG	0.413000													10	37					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920518	4920518	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:4920518C>T	ENST00000433855.1	+	1	2177	c.1311C>T	c.(1309-1311)atC>atT	p.I437I	KCNA6_ENST00000280684.3_Silent_p.I437I	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	437						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GGGGAAAGATCGTGGGCTCGC	0.592000										HNSCC(72;0.22)			18	69					0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91795187	91795187	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:91795187G>A	ENST00000394232.1	+	3	1060	c.590G>A	c.(589-591)gGa>gAa	p.G197E	SV2B_ENST00000330276.4_Missense_Mutation_p.G197E|SV2B_ENST00000545111.2_Missense_Mutation_p.G46E	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	197					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TTCGTGCAGGGATATGGAGCC	0.577000													23	68					0	0	1	0	0
PCYT1B	9468	broad.mit.edu	37	X	24665156	24665156	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:24665156G>A	ENST00000379144.2	-	1	197	c.67C>T	c.(67-69)Ccc>Tcc	p.P23S	PCYT1B_ENST00000379145.1_Intron|PCYT1B_ENST00000356768.4_Missense_Mutation_p.P23S	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	23						endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	GTTTCTGAGGGAGGCTCATTG	0.483000													26	26					0	0	1	0	0
KIAA0408	9729	broad.mit.edu	37	6	127767577	127767577	+	Silent	SNP	T	T	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:127767577T>C	ENST00000483725.3	-	5	2223	c.1887A>G	c.(1885-1887)ggA>ggG	p.G629G	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	629							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCGGATCTATTCCTTGCTTCA	0.398000													46	125					0	0	1	0	0
PCED1B	91523	broad.mit.edu	37	12	47628926	47628926	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:47628926G>A	ENST00000546455.1	+	4	811	c.80G>A	c.(79-81)aGg>aAg	p.R27K	PCED1B_ENST00000432328.1_Missense_Mutation_p.R27K					PC-esterase domain containing 1B																		TCTGTGCATAGGGCAGTATAC	0.592000													14	38					0	0	1	0	0
FAM83D	81610	broad.mit.edu	37	20	37580886	37580886	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:37580886C>T	ENST00000217429.4	+	4	1612	c.1571C>T	c.(1570-1572)cCc>cTc	p.P524L		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	494					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				ACTGGTTCTCCCGCTTCCATC	0.512000													11	50					0	0	1	0	0
ZFX	7543	broad.mit.edu	37	X	24229438	24229438	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:24229438C>T	ENST00000379177.1	+	11	2790	c.2363C>T	c.(2362-2364)cCt>cTt	p.P788L	ZFX_ENST00000338565.3_Missense_Mutation_p.P738L|ZFX_ENST00000304543.5_Missense_Mutation_p.P788L|ZFX_ENST00000379188.3_Missense_Mutation_p.P788L|ZFX_ENST00000539115.1_Missense_Mutation_p.P559L|ZFX_ENST00000540034.1_Missense_Mutation_p.P827L	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	788					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TTCCGAAGACCTTCAGAAAAG	0.448000													30	30					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100170967	100170967	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:100170967G>A	ENST00000317233.4	-	23	3600	c.3365C>T	c.(3364-3366)cCc>cTc	p.P1122L	AFF3_ENST00000409236.1_Missense_Mutation_p.P1122L|AFF3_ENST00000356421.2_Missense_Mutation_p.P1147L|AFF3_ENST00000409579.1_Missense_Mutation_p.P1147L	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1122					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGAGGGGTTGGGAGACATGGG	0.667000													9	24					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119466224	119466224	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:119466224G>A	ENST00000369429.3	-	5	705	c.696C>T	c.(694-696)atC>atT	p.I232I	TBX15_ENST00000207157.3_Silent_p.I126I			Q96SF7	TBX15_HUMAN	T-box 15	232						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AGTGCAGAATGATCTGAAATA	0.413000													13	49					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754779	76754779	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:76754779G>A	ENST00000536229.3	+	1	3098	c.2389G>A	c.(2389-2391)Gaa>Aaa	p.E797K	SALL3_ENST00000575389.2_Missense_Mutation_p.E930K|SALL3_ENST00000537592.2_Missense_Mutation_p.E930K			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	943				DDDMDE -> NDNLDK (in Ref. 2; CAB65124).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGAGCCCCAGGAAATCCCGCT	0.746000													8	13					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33622330	33622330	+	Silent	SNP	G	G	A	rs111447342	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:33622330G>A	ENST00000404816.2	+	33	5318	c.4965G>A	c.(4963-4965)acG>acA	p.T1655T	LTBP1_ENST00000272273.5_Silent_p.T553T|LTBP1_ENST00000418533.2_Silent_p.T1287T|LTBP1_ENST00000354476.3_Silent_p.T1656T|LTBP1_ENST00000404525.1_Silent_p.T1276T|LTBP1_ENST00000390003.4_Silent_p.T1330T|LTBP1_ENST00000407925.1_Silent_p.T1329T|LTBP1_ENST00000402934.1_Silent_p.T1274T			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1655	EGF-like 17.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACTTGGATACGGCCAAGATGA	0.458000													14	60					0	0	1	0	0
C7orf34	135927	broad.mit.edu	37	7	142636792	142636792	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:142636792C>T	ENST00000409607.3	+	1	190	c.149C>T	c.(148-150)cCt>cTt	p.P50L		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	25						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					CAGGTGAAGCCTCTGAACGGG	0.597000													14	110					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179408960	179408960	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:179408960G>A	ENST00000589042.1	-	345	96220	c.95996C>T	c.(95995-95997)tCa>tTa	p.S31999L	TTN_ENST00000342175.6_Missense_Mutation_p.S23126L|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S29431L|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S23059L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S30358L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S22934L|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30358	Ig-like 142.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGCAATTGATTCGCTGTA	0.383000													14	40					0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233349920	233349920	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:233349920C>T	ENST00000304546.1	-	3	1054	c.844G>A	c.(844-846)Gac>Aac	p.D282N	ECEL1_ENST00000409941.1_Missense_Mutation_p.D282N	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	282					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TTCTCACTGTCCTCATCCTGA	0.662000													12	30					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				63	50					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136562446	136562446	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:136562446G>A	ENST00000264162.2	-	10	4365	c.4355C>T	c.(4354-4356)tCc>tTc	p.S1452F		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1452	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCGAGACCAGGAGATGGAAAA	0.552000													15	47					0	0	1	0	0
AC015849.16	0	broad.mit.edu	37	17	34235834	34235834	+	RNA	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:34235834C>T	ENST00000587132.1	-	0	2193																											TATGGCAAATCCCAGGTCTGA	0.468000													10	26					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79322300	79322300	+	Silent	SNP	A	A	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:79322300A>G	ENST00000428286.1	-	8	5013	c.3813T>C	c.(3811-3813)gaT>gaC	p.D1271D	PRUNE2_ENST00000376718.3_Silent_p.D1630D			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1630					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGGAATCACCATCAACTGAGT	0.378000													15	16					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46930172	46930172	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:46930172G>A	ENST00000262738.3	-	1	2895	c.2896C>T	c.(2896-2898)Ctt>Ttt	p.L966F	CELSR1_ENST00000395964.1_Missense_Mutation_p.L966F	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	966	Cadherin 7.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGAGCCCAAAGGTTGTACACG	0.607000													27	124					0	0	1	0	0
CYP2E1	1571	broad.mit.edu	37	10	135350688	135350688	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:135350688C>T	ENST00000463117.2	+	9	1361	c.1089C>T	c.(1087-1089)ctC>ctT	p.L363L	CYP2E1_ENST00000252945.3_Silent_p.L363L|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	363					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	TCATCACCCTCGTGCCCTCCA	0.542000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				20	51					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11732253	11732253	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:11732253C>T	ENST00000304623.8	-	2	358	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.E57K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	57					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCTACCTGTTCTTTGACTGAG	0.418000													19	107					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115384621	115384621	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:115384621G>A	ENST00000369358.4	-	22	2581	c.2337C>T	c.(2335-2337)ttC>ttT	p.F779F	NRAP_ENST00000359988.3_Silent_p.F771F|NRAP_ENST00000360478.3_Silent_p.F736F|NRAP_ENST00000369360.3_Silent_p.F744F			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	771						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GGGCCTGCAGGAAGAGAGGCT	0.532000													31	82					0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141526512	141526512	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:141526512C>T	ENST00000264952.2	+	3	1213	c.1076C>T	c.(1075-1077)cCt>cTt	p.P359L		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	359	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TACATGGCTCCTGAGATCCTA	0.433000													23	58					0	0	1	0	0
RNF43	54894	broad.mit.edu	37	17	56434779	56434779	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:56434779C>T	ENST00000581868.1	-	8	2174	c.1977G>A	c.(1975-1977)ctG>ctA	p.L659L	RNF43_ENST00000577625.1_Intron|RNF43_ENST00000583753.1_Intron|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Intron|RNF43_ENST00000584437.1_Intron|RNF43_ENST00000407977.2_Intron|RNF43_ENST00000500597.2_Intron			Q68DV7	RNF43_HUMAN	ring finger protein 43	0	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGAAATATTCAGCTGTAGTC	0.532000													9	27					0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49669382	49669382	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:49669382C>T	ENST00000252826.5	+	3	303	c.177C>T	c.(175-177)acC>acT	p.T59T	TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000427978.2_Silent_p.T59T	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	59					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCGTGGTGACCGTGTGGGACA	0.701000													5	22					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227958964	227958964	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:227958964G>A	ENST00000396625.3	-	20	1453	c.1246C>T	c.(1246-1248)Cct>Tct	p.P416S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P416S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	416	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGAAGCCCAGGAAGACCAGGA	0.507000													12	33					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24413179	24413179	+	Missense_Mutation	SNP	C	C	T	rs140144262		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:24413179C>T	ENST00000330966.7	-	15	1918	c.1756G>A	c.(1756-1758)Gat>Aat	p.D586N	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Missense_Mutation_p.D585N|MYOM3_ENST00000374434.3_Missense_Mutation_p.D585N|RP11-293P20.2_ENST00000439239.2_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	585	Fibronectin type-III 2.							p.D585N(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCCGAGGGATCGCTCAGGCCA	0.632000													16	55					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50854670	50854670	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:50854670G>A	ENST00000395562.2	+	9	1454	c.985G>A	c.(985-987)Gga>Aga	p.G329R	CHAT_ENST00000339797.1_Missense_Mutation_p.G293R|CHAT_ENST00000455728.2_Missense_Mutation_p.G293R|CHAT_ENST00000395559.2_Missense_Mutation_p.G293R|CHAT_ENST00000337653.2_Missense_Mutation_p.G411R|CHAT_ENST00000351556.3_Missense_Mutation_p.G293R	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	411					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CCTTCACGGCGGAGGCTACAG	0.637000													18	53					0	0	1	0	0
FMOD	2331	broad.mit.edu	37	1	203316497	203316497	+	Missense_Mutation	SNP	G	G	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:203316497G>T	ENST00000354955.4	-	2	1365	c.902C>A	c.(901-903)tCc>tAc	p.S301Y	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	301					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CTGGTTGTAGGAGAGGTCTAG	0.547000													98	95					9.98717e-52	1.01075e-51	1	1	0
MNDA	4332	broad.mit.edu	37	1	158811968	158811968	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:158811968C>T	ENST00000368141.4	+	2	286	c.25C>T	c.(25-27)Ctt>Ttt	p.L9F	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	9	DAPIN.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.L9I(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CAAGAAAATTCTTTTGCTGAA	0.308000													28	61					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237921077	237921077	+	Splice_Site	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:237921077G>A	ENST00000366574.2	+	82	11642		c.e82+1		RYR2_ENST00000542537.1_Splice_Site|RYR2_ENST00000360064.6_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGTACAGCAGGTAACAGCTTC	0.323000													41	72					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854537	12854537	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:12854537G>A	ENST00000332296.7	+	3	864	c.761G>A	c.(760-762)cGg>cAg	p.R254Q		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	254										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCAAGGACGGTTAGTTGCC	0.438000													42	148					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233190032	233190032	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:233190032G>A	ENST00000258229.8	-	25	4567	c.4333C>T	c.(4333-4335)Cga>Tga	p.R1445*	PCNXL2_ENST00000344698.2_Nonsense_Mutation_p.R97*	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1445						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TCCAGTCCTCGAAGTTGAAAG	0.388000													6	54					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	G	A	rs28392876	by1000genomes	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081																											GCCTTCCGCCGGGCCAGCAGC	0.672000													5	27					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95158206	95158206	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:95158206G>A	ENST00000027335.3	-	15	2241	c.2117C>T	c.(2116-2118)tCc>tTc	p.S706F	CDH17_ENST00000441892.2_Missense_Mutation_p.S492F|CDH17_ENST00000450165.2_Missense_Mutation_p.S706F	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	706	Cadherin 7.					integral to membrane	calcium ion binding	p.S706F(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			ACTGCCGAGGGAAAATGTAAA	0.433000													12	52					0	0	1	0	0
HSD3B2	3284	broad.mit.edu	37	1	119965205	119965205	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:119965205G>A	ENST00000543831.1	+	4	1330	c.1081G>A	c.(1081-1083)Gac>Aac	p.D361N	HSD3B2_ENST00000369416.3_Missense_Mutation_p.D361N	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	361					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	TTCCCTTGTGGACCGGCACAA	0.502000													9	32					0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260419	44260419	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:44260419G>A	ENST00000315087.7	-	7	1377	c.717C>T	c.(715-717)taC>taT	p.Y239Y	ST8SIA5_ENST00000538168.1_Silent_p.Y275Y|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Silent_p.Y208Y	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	239					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						ACGCGTTCTCGTACACCTGCA	0.627000													5	10					0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220479908	220479908	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:220479908C>T	ENST00000456909.1	+	24	3052	c.2962C>T	c.(2962-2964)Cct>Tct	p.P988S	STK11IP_ENST00000295641.10_Missense_Mutation_p.P999S			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	999					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGCCCTCTCCTCCAGCAGC	0.657000													3	11					0	0	1	0	0
SRL	6345	broad.mit.edu	37	16	4245657	4245657	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:4245657G>A	ENST00000399609.3	-	5	519	c.507C>T	c.(505-507)ttC>ttT	p.F169F	SRL_ENST00000537996.1_Silent_p.F127F	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	628	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						GCTTCTCTAGGAAATTCTGGC	0.517000													27	76					0	0	1	0	0
CRHR2	1395	broad.mit.edu	37	7	30721579	30721579	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:30721579C>T	ENST00000471646.1	-	2	598	c.181G>A	c.(181-183)Gag>Aag	p.E61K	CRHR2_ENST00000348438.4_Missense_Mutation_p.E88K|CRHR2_ENST00000341843.4_Missense_Mutation_p.E47K|CRHR2_ENST00000506074.2_Missense_Mutation_p.E61K	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	61					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CACGGCCTCTCCACGAGGGCT	0.672000													8	23					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14834333	14834333	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:14834333C>T	ENST00000261170.3	-	5	826	c.690G>A	c.(688-690)aaG>aaA	p.K230K	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	230					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CCTGAAACTCCTTATCTTGTC	0.393000													11	44					0	0	1	0	0
HERC3	8916	broad.mit.edu	37	4	89579580	89579580	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:89579580C>T	ENST00000402738.1	+	10	1323	c.1084C>T	c.(1084-1086)Cat>Tat	p.H362Y	HERC3_ENST00000264345.3_Missense_Mutation_p.H362Y|HERC3_ENST00000543130.1_5'UTR	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	362					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CTTTAAATATCATATCGTTAA	0.348000													5	13					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32582490	32582490	+	Silent	SNP	G	G	A	rs145603758		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr21:32582490G>A	ENST00000286827.3	-	12	2730	c.2259C>T	c.(2257-2259)aaC>aaT	p.N753N	TIAM1_ENST00000541036.1_Silent_p.N728N	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	753					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGCAGTCAGGGTTGTGCTGGT	0.517000													20	80					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59457901	59457901	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:59457901C>T	ENST00000589222.1	+	24	2696	c.2628C>T	c.(2626-2628)ccC>ccT	p.P876P	BCAS3_ENST00000390652.5_Intron|BCAS3_ENST00000588874.1_Intron|BCAS3_ENST00000588462.1_Silent_p.P891P|BCAS3_ENST00000585744.1_Intron|BCAS3_ENST00000585812.1_3'UTR|BCAS3_ENST00000407086.3_Intron|BCAS3_ENST00000408905.3_Silent_p.P876P|RP11-332H18.5_ENST00000585765.1_RNA			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	0						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AAACCTTCCCCCCTGAGAGAC	0.453000													3	33					0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440146	40440146	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:40440146G>A	ENST00000319592.4	-	4	1474	c.765C>T	c.(763-765)atC>atT	p.I255I	RBM47_ENST00000381793.2_Silent_p.I255I|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Silent_p.I217I|RBM47_ENST00000381795.6_Silent_p.I255I|RBM47_ENST00000295971.7_Silent_p.I255I			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	255	RRM 3.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGGTGGTCTCGATCATGAGGT	0.607000													20	78					0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	484802	484802	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:484802G>A	ENST00000264938.3	-	5	774	c.765C>T	c.(763-765)ttC>ttT	p.F255F	SLC9A3_ENST00000514375.1_Silent_p.F255F	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	255						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGCTCACCACGAAGAAGGACA	0.682000													22	74					0	0	1	0	0
PRELP	5549	broad.mit.edu	37	1	203452395	203452395	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:203452395C>T	ENST00000343110.2	+	2	210	c.83C>T	c.(82-84)cCc>cTc	p.P28L		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	28					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	p.P28H(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CGACCAAGACCCGGGACTGGG	0.647000													105	109					0	0	1	0	0
ZFP37	7539	broad.mit.edu	37	9	115812183	115812183	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:115812183G>A	ENST00000553380.1	-	2	146	c.147C>T	c.(145-147)ttC>ttT	p.F49F	ZFP37_ENST00000555206.1_Intron|ZFP37_ENST00000374227.3_Intron			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	44	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TCACATGTTTGAATGTTACTG	0.403000													19	21					0	0	1	0	0
SPATA2	9825	broad.mit.edu	37	20	48522674	48522674	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:48522674G>A	ENST00000422556.1	-	3	1394	c.1045C>T	c.(1045-1047)Cgg>Tgg	p.R349W	SPATA2_ENST00000289431.5_Missense_Mutation_p.R349W|SPATA2_ENST00000543716.1_Missense_Mutation_p.R212W	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	349					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GCATCCTGCCGACGGTAGGTG	0.637000													37	74					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476817	120476817	+	Missense_Mutation	SNP	G	G	A	rs149989546	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:120476817G>A	ENST00000355622.6	+	3	2512	c.2411G>A	c.(2410-2412)cGg>cAg	p.R804Q	TLR4_ENST00000394487.4_Missense_Mutation_p.R764Q|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	804	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GTCCTGGGGCGGCACATCTTC	0.552000													71	72					0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4935985	4935985	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:4935985C>T	ENST00000322013.3	-	1	937	c.909G>A	c.(907-909)caG>caA	p.Q303Q	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATCCCGGATCTGTTTGGTCT	0.473000													3	35					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11384956	11384956	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:11384956G>A	ENST00000304623.8	-	7	1187	c.998C>T	c.(997-999)tCg>tTg	p.S333L	CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000359640.2_Missense_Mutation_p.S333L|CTNND2_ENST00000511377.1_Missense_Mutation_p.S242L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	333					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGTGGGGGGCGAGGTCACGCG	0.687000													7	21					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10401166	10401166	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:10401166G>A	ENST00000226207.5	-	31	4344	c.4250C>T	c.(4249-4251)tCc>tTc	p.S1417F	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1417						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTCTCAAGGGAAGCACATTT	0.478000													21	65					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36748260	36748260	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:36748260C>T	ENST00000354618.5	+	3	320	c.96C>T	c.(94-96)tcC>tcT	p.S32S	THRAP3_ENST00000469141.2_Silent_p.S32S	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	32	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGTCTCGGTCCCGAAGCCGAT	0.458000			T	USP6	aneurysmal bone cysts								20	52					0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67271590	67271590	+	Missense_Mutation	SNP	G	G	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:67271590G>T	ENST00000258201.4	-	7	971	c.724C>A	c.(724-726)Cgt>Agt	p.R242S	FHOD1_ENST00000567687.1_Intron	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	242	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TTCACTGCACGGATGAACAGC	0.572000													24	49					1.77063e-15	1.78766e-15	1	1	0
IGHV1-45	28466	broad.mit.edu	37	14	106963063	106963063	+	RNA	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:106963063G>A	ENST00000390621.2	-	0	276																											TGTTACCATTGAAAGGTGTGA	0.552000													27	111					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72193564	72193564	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:72193564G>A	ENST00000356056.5	-	23	3590	c.3118C>T	c.(3118-3120)Ctc>Ttc	p.L1040F	MYO9A_ENST00000444904.1_Missense_Mutation_p.L1021F|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Missense_Mutation_p.L660F|MYO9A_ENST00000564571.1_Missense_Mutation_p.L1040F|MYO9A_ENST00000424560.1_Missense_Mutation_p.L1040F	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1040	IQ 1.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTCAGATGGAGGAAATGCTGC	0.448000													13	35					0	0	1	0	0
SYT8	90019	broad.mit.edu	37	11	1857719	1857719	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:1857719C>T	ENST00000341958.3	+	5	883	c.581C>T	c.(580-582)tCg>tTg	p.S194L	SYT8_ENST00000535046.1_3'UTR|SYT8_ENST00000381968.3_Missense_Mutation_p.S208L			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	208	C2 1.					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AAGCGCTTCTCGGGGCATGAG	0.672000													5	31					0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212823	62212823	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:62212823C>T	ENST00000519846.1	+	3	909	c.437C>T	c.(436-438)gCc>gTc	p.A146V	CLVS1_ENST00000518592.1_Intron|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000325897.4_Missense_Mutation_p.A146V			Q8IUQ0	CLVS1_HUMAN	clavesin 1	146	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CTGTTTGCAGCCAATTGGGAT	0.448000													17	42					0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9631945	9631945	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:9631945C>T	ENST00000570827.2	+	15	3151	c.2077C>T	c.(2077-2079)Cgg>Tgg	p.R693W	USP43_ENST00000570475.1_Missense_Mutation_p.R999W|USP43_ENST00000285199.6_Missense_Mutation_p.R1004W			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	1004					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GTCCGTGTTTCGGAAGAAGGA	0.602000													7	36					0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95680314	95680314	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:95680314G>A	ENST00000433389.2	+	10	1259	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	ESRP1_ENST00000454170.2_Missense_Mutation_p.E357K|ESRP1_ENST00000423620.2_Missense_Mutation_p.E357K|ESRP1_ENST00000358397.5_Missense_Mutation_p.E357K	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	357	RRM 2.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TGGGGGAAAGGAAGGCATCCT	0.527000													20	81					0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88466448	88466448	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:88466448C>T	ENST00000361373.4	+	7	1078	c.1057C>T	c.(1057-1059)Cct>Tct	p.P353S	LDB3_ENST00000458213.2_Intron|LDB3_ENST00000429277.2_Intron|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000352360.5_Intron	NM_007078.2	NP_009009.1	O75112	LDB3_HUMAN	LIM domain binding 3	353						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CACCACAGCCCCTGCTTCAAG	0.672000													9	37					0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88729662	88729662	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:88729662G>A	ENST00000340700.5	-	2	722	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	KCNK10_ENST00000319231.5_Missense_Mutation_p.R96W|KCNK10_ENST00000312350.5_Missense_Mutation_p.R96W	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	91					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.R96W(1)|p.R91W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TCCAATGCCCGGAAGACAAGA	0.572000													13	64					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9057341	9057341	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:9057341G>A	ENST00000383836.3	-	15	2180	c.1753C>T	c.(1753-1755)Cga>Tga	p.R585*	SRGAP3-AS1_ENST00000414633.1_RNA|SRGAP3_ENST00000360413.3_Nonsense_Mutation_p.R561*|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	585	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCCAGTCCTCGGAAATACAGT	0.388000			T	RAF1	pilocytic astrocytoma								19	47					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41385279	41385279	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr21:41385279C>T	ENST00000400454.1	-	33	6198	c.5721G>A	c.(5719-5721)atG>atA	p.M1907I		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1907				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACAAAAAGTCCATTCTAAGGT	0.498000													18	42					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24902892	24902892	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:24902892G>A	ENST00000313367.2	-	9	1248	c.797C>T	c.(796-798)cCc>cTc	p.P266L	OSBPL3_ENST00000409069.1_Intron|OSBPL3_ENST00000431825.2_Intron|OSBPL3_ENST00000396431.1_Intron|OSBPL3_ENST00000396429.1_Missense_Mutation_p.P266L|OSBPL3_ENST00000352860.1_Intron|OSBPL3_ENST00000353930.1_Missense_Mutation_p.P266L	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	266					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TTCCTTTTTGGGACTTTCAAA	0.458000													36	52					0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6024114	6024114	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:6024114G>A	ENST00000330728.4	-	1	310	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L89I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGAGGAAGAGAAGGCTGAGG	0.592000													16	42					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38976453	38976453	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:38976453G>A	ENST00000355481.4	+	34	5289	c.5158G>A	c.(5158-5160)Gaa>Aaa	p.E1720K	RYR1_ENST00000360985.3_Missense_Mutation_p.E1720K|RYR1_ENST00000359596.3_Missense_Mutation_p.E1720K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1720	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CATCCACCTCGAAAGTGCCTG	0.647000													21	90					0	0	1	0	0
TAP2	6891	broad.mit.edu	37	6	32798422	32798422	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:32798422G>A	ENST00000374897.2	-	8	1565	c.1434C>T	c.(1432-1434)ccC>ccT	p.P478P	TAP2_ENST00000374899.4_Silent_p.P478P|TAP2_ENST00000452392.2_Silent_p.P478P	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	478	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										CAGGGCGATTGGGATATGCAA	0.542000													5	62					0	0	1	0	0
AK4	205	broad.mit.edu	37	1	65684562	65684562	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:65684562C>T	ENST00000395334.2	+	4	749	c.391C>T	c.(391-393)Cct>Tct	p.P131S	AK4_ENST00000545314.1_Missense_Mutation_p.P131S|AK4_ENST00000470888.2_3'UTR|AK4_ENST00000327299.7_Missense_Mutation_p.P131S|AK4_ENST00000546702.1_Missense_Mutation_p.P79S	NM_001005353.2	NP_001005353.1	P27144	KAD4_HUMAN	adenylate kinase 4	131						mitochondrial matrix	adenylate kinase activity|ATP binding|GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	9						GATTCACCCTCCTAGCGGAAG	0.408000													14	30					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166973437	166973437	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:166973437C>T	ENST00000367872.4	+	6	788	c.544C>T	c.(544-546)Cct>Tct	p.P182S	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.P151S	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	182					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TCACAAGATTCCTATTTCAAA	0.388000													68	68					0	0	1	0	0
GPR63	81491	broad.mit.edu	37	6	97247344	97247344	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:97247344C>T	ENST00000229955.3	-	2	609	c.264G>A	c.(262-264)atG>atA	p.M88I	GPR63_ENST00000417980.1_Missense_Mutation_p.M88I	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	88						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GAATGAATATCATTATAGCAG	0.433000													22	50					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196749451	196749451	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:196749451C>T	ENST00000312428.6	-	35	5721	c.5621G>A	c.(5620-5622)cGa>cAa	p.R1874Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1874					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CATTAGTTCTCGAAGAATCTT	0.383000													13	39					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442600	138442600	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:138442600C>T	ENST00000344876.4	-	4	3377	c.2991G>A	c.(2989-2991)ggG>ggA	p.G997G	PCDH18_ENST00000511115.1_Silent_p.G177G|PCDH18_ENST00000412923.2_Silent_p.G996G|PCDH18_ENST00000507846.1_Silent_p.G776G|PCDH18_ENST00000510305.1_Silent_p.G208G	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	997	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGCTGGTATCCCCAGTGTCCT	0.507000													15	66					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625327	140625327	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140625327G>A	ENST00000231173.3	+	1	181	c.181G>A	c.(181-183)Gag>Aag	p.E61K		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		61	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGCTAGCCGAGCGGGGAGC	0.552000													20	63					0	0	1	0	0
HCP5	10866	broad.mit.edu	37	6	31431753	31431753	+	RNA	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:31431753C>T	ENST00000414046.2	+	0	825					NR_040662.1		Q6MZN7	HCP5_HUMAN							defense response					urinary_tract(1)	1						ccgctggtctctggacacata	0.527000													49	108					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													4	114					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62192525	62192525	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:62192525C>T	ENST00000467148.1	-	14	7125	c.7056G>A	c.(7054-7056)ctG>ctA	p.L2352L	HELZ2_ENST00000427522.2_Silent_p.L1783L	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GCCTCACGTCCAGGATTTTGA	0.602000													18	86					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3216752	3216752	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:3216752G>A	ENST00000520002.1	-	22	3784	c.3229C>T	c.(3229-3231)Cgt>Tgt	p.R1077C	CSMD1_ENST00000602723.1_Missense_Mutation_p.R1077C|CSMD1_ENST00000602557.1_Missense_Mutation_p.R1077C|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1077C|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1076C|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1076C|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1076C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1077	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTTCTAAACGATATCCCAGG	0.557000													21	64					0	0	1	0	0
RHBDD2	57414	broad.mit.edu	37	7	75513071	75513071	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:75513071C>T	ENST00000318622.4	+	4	848	c.219C>T	c.(217-219)ctC>ctT	p.L73L	RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000006777.6_Silent_p.L214L|RHBDD2_ENST00000428119.1_Silent_p.L73L	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	214						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						CACTGAAGCTCGATCAGACCT	0.557000													92	123					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86087990	86087990	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:86087990G>A	ENST00000330753.4	+	2	899	c.132G>A	c.(130-132)agG>agA	p.R44R	FLRT2_ENST00000554746.1_Silent_p.R44R	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	44	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GCTGCGACAGGAACTTTGTCT	0.507000													32	111					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38622578	38622578	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:38622578C>T	ENST00000413689.1	-	17	3265	c.3072G>A	c.(3070-3072)aaG>aaA	p.K1024K	SCN5A_ENST00000455624.2_Silent_p.K1024K|SCN5A_ENST00000450102.2_Silent_p.K1024K|SCN5A_ENST00000449557.2_Silent_p.K1024K|SCN5A_ENST00000443581.1_Silent_p.K1024K|SCN5A_ENST00000425664.1_Silent_p.K1024K|SCN5A_ENST00000423572.2_Silent_p.K1024K|SCN5A_ENST00000414099.2_Silent_p.K1024K|SCN5A_ENST00000333535.4_Silent_p.K1024K|SCN5A_ENST00000451551.2_Silent_p.K1024K	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1024					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ACCGTGTTTCCTTGCGGGTGG	0.682000													6	29					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53960452	53960452	+	RNA	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:53960452C>T	ENST00000454407.1	+	0	3144							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AATGCTACAACCATTGTGAAT	0.393000													9	18					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16327798	16327798	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:16327798G>A	ENST00000244769.4	-	8	1680	c.744C>T	c.(742-744)gtC>gtT	p.V248V	ATXN1_ENST00000436367.1_Silent_p.V248V	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	248					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TGGAAATGTGGACGTACTGGT	0.672000													11	6					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130413282	130413282	+	Silent	SNP	G	G	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:130413282G>T	ENST00000370904.1	-	16	2563	c.1653C>A	c.(1651-1653)gtC>gtA	p.V551V	IGSF1_ENST00000370910.1_Silent_p.V551V|IGSF1_ENST00000370903.3_Silent_p.V560V|IGSF1_ENST00000361420.3_Silent_p.V560V			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	560					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGAGCATGGTGACCCCTTGAG	0.617000													11	19					6.31663e-08	6.34685e-08	1	1	0
CYP4F12	66002	broad.mit.edu	37	19	15794543	15794543	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:15794543G>A	ENST00000550308.1	+	7	1268	c.888G>A	c.(886-888)ttG>ttA	p.L296L	CYP4F12_ENST00000324632.9_Silent_p.L296L	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCAAGACTTTGGATTTCATTG	0.443000													38	133					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89971984	89971984	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:89971984G>A	ENST00000405460.2	+	25	5497	c.5401G>A	c.(5401-5403)Gaa>Aaa	p.E1801K	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1801	Calx-beta 12.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCCTGAACTGGAAAAATCTTT	0.318000													5	18					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111430824	111430824	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:111430824C>T	ENST00000265162.5	+	5	1397	c.1055C>T	c.(1054-1056)cCa>cTa	p.P352L		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	352					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ATCGCTATTCCAGATTTTGGC	0.393000													20	56					0	0	1	0	0
SCN3B	55800	broad.mit.edu	37	11	123516298	123516298	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:123516298G>A	ENST00000392770.2	-	2	1018	c.216C>T	c.(214-216)ttC>ttT	p.F72F	SCN3B_ENST00000299333.3_Silent_p.F72F|SCN3B_ENST00000530277.1_Silent_p.F72F	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	72	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	p.F72L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		AACATACAAGGAAATCTTTAC	0.572000													25	81					0	0	1	0	0
LYN	4067	broad.mit.edu	37	8	56866538	56866538	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:56866538G>A	ENST00000520220.2	+	8	996	c.722G>A	c.(721-723)tGg>tAg	p.W241*	LYN_ENST00000519728.1_Nonsense_Mutation_p.W262*	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	262					erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			GGGGAAGTCTGGATGGGTAAG	0.542000													16	95					0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24655657	24655657	+	Splice_Site	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:24655657C>T	ENST00000354464.6	-	10	1017	c.840_splice	c.e10-1	p.A281_splice	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	281					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TTCAGTAAGGCCTTGACAGAG	0.542000													29	88					0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	119991365	119991365	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:119991365G>A	ENST00000341846.5	-	6	1865	c.1444C>T	c.(1444-1446)Cgg>Tgg	p.R482W	TRIM29_ENST00000541857.1_Missense_Mutation_p.R215W|TRIM29_ENST00000524816.3_Missense_Mutation_p.R48W|TRIM29_ENST00000529044.1_Missense_Mutation_p.R221W|TRIM29_ENST00000525887.1_5'UTR|TRIM29_ENST00000528870.1_Missense_Mutation_p.R15W	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	482					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		TATGATGTCCGGACCCCACCT	0.537000													6	12					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9417781	9417781	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:9417781G>A	ENST00000378501.2	+	26	2725	c.2710G>A	c.(2710-2712)Ggt>Agt	p.G904S	PLCB4_ENST00000378473.3_Missense_Mutation_p.G916S|PLCB4_ENST00000414679.2_Missense_Mutation_p.G916S|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.G904S|PLCB4_ENST00000278655.4_Missense_Mutation_p.G904S|PLCB4_ENST00000378493.1_Missense_Mutation_p.G904S	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	904					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CCTGGCCTCTGGTGTGGAAGC	0.483000													7	20					0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26821419	26821419	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:26821419G>A	ENST00000444914.3	+	9	1764	c.1344G>A	c.(1342-1344)ggG>ggA	p.G448G	SLC13A2_ENST00000545060.1_Silent_p.G356G|SLC13A2_ENST00000314669.5_Silent_p.G399G|SLC13A2_ENST00000537681.1_Silent_p.G328G	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	399						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	AAAACCCAGGGAAGCTGAAGG	0.557000											OREG0024276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	66					0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47172522	47172522	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:47172522G>A	ENST00000447411.1	-	10	961	c.755C>T	c.(754-756)cCt>cTt	p.P252L	SLC38A4_ENST00000266579.4_Missense_Mutation_p.P252L	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	252					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					ATCCAAAACAGGTAGAGGGCA	0.358000													9	37					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54520288	54520288	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:54520288C>T	ENST00000566473.2	+	9	1102	c.1102C>T	c.(1102-1104)Cct>Tct	p.P368S	ANKFN1_ENST00000318698.2_Missense_Mutation_p.P368S			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	368										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ATGTGCCTCTCCTTCTAGTAG	0.512000													14	45					0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113786608	113786608	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:113786608C>T	ENST00000259213.4	-	4	276	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	IL36B_ENST00000327407.2_Missense_Mutation_p.E57K	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	57					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						TTACCCTTTTCCTTGTCACTG	0.418000													15	53					0	0	1	0	0
ART5	116969	broad.mit.edu	37	11	3660081	3660081	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:3660081G>A	ENST00000397067.3	-	4	814	c.685C>T	c.(685-687)Cct>Tct	p.P229S	ART5_ENST00000397068.3_Intron|ART5_ENST00000359918.4_Intron			Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	226						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		AACTCTCCAGGGGCCAAGAGC	0.597000													10	28					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116429581	116429581	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:116429581G>A	ENST00000281928.3	-	17	3384	c.3178C>T	c.(3178-3180)Ccc>Tcc	p.P1060S		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1060					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CCACCTCTGGGAGTTCTTGGG	0.607000													16	69					0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99434119	99434119	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:99434119C>T	ENST00000354829.2	+	2	218	c.115C>T	c.(115-117)Cct>Tct	p.P39S	CYP3A43_ENST00000415413.1_Missense_Mutation_p.P39S|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000417625.1_Missense_Mutation_p.P39S|CYP3A43_ENST00000222382.5_Missense_Mutation_p.P39S|CYP3A43_ENST00000421837.2_Missense_Mutation_p.P39S|CYP3A43_ENST00000312017.5_Missense_Mutation_p.P39S|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000477658.1_Intron	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	39			YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	GCTGGGAATTCCTGGGCCAAC	0.388000													7	54					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50964915	50964915	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:50964915G>A	ENST00000374103.4	-	3	367	c.282C>T	c.(280-282)gtC>gtT	p.V94V	OGDHL_ENST00000432695.1_Intron|OGDHL_ENST00000419399.1_Intron	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	94					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TGCTCTCATGGACAACAGAAG	0.592000													15	65					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136481533	136481533	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:136481533G>A	ENST00000264160.4	+	26	3341	c.2971G>A	c.(2971-2973)Gaa>Aaa	p.E991K	R3HDM1_ENST00000409606.1_Missense_Mutation_p.E992K|R3HDM1_ENST00000410054.1_Missense_Mutation_p.E936K|R3HDM1_ENST00000409478.1_Missense_Mutation_p.E863K|R3HDM1_ENST00000329971.3_Missense_Mutation_p.E862K	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	991							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GGAAATTACTGAACTACCAGA	0.443000													30	80					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99640787	99640787	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:99640787C>T	ENST00000345514.2	-	3	2439	c.2173G>A	c.(2173-2175)Gac>Aac	p.D725N	BCL11B_ENST00000357195.3_Missense_Mutation_p.D796N|BCL11B_ENST00000443726.2_Missense_Mutation_p.D602N	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	796						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TCGCACGTGTCGCTGCGGCGG	0.731000			T	TLX3	T-ALL								5	16					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142563804	142563804	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:142563804C>T	ENST00000392957.2	+	9	1979	c.1192C>T	c.(1192-1194)Cga>Tga	p.R398*	EPHB6_ENST00000411471.2_Nonsense_Mutation_p.R121*|EPHB6_ENST00000442129.1_Nonsense_Mutation_p.R398*	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	398	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCTGGGGGGTCGAGGGGACCT	0.652000													7	20					0	0	1	0	0
TAF15	8148	broad.mit.edu	37	17	34171931	34171931	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:34171931G>A	ENST00000588240.1	+	15	1743	c.1628G>A	c.(1627-1629)gGa>gAa	p.G543E	TAF15_ENST00000592237.1_Missense_Mutation_p.E348K|TAF15_ENST00000311979.3_Missense_Mutation_p.G540E	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	543	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GGCTACGGTGGAGACCGAAGT	0.622000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								31	87					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95720248	95720248	+	RNA	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:95720248G>A	ENST00000480546.1	-	0	1049					NR_002319.2																						GAGCCTTTTGGGGGGCTGGTC	0.512000													10	40					0	0	1	0	0
OR6C75	390323	broad.mit.edu	37	12	55759080	55759080	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:55759080G>A	ENST00000343399.3	+	1	186	c.186G>A	c.(184-186)cgG>cgA	p.R62R		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TCTTCCTTCGGAACTTCTCAT	0.433000													32	113					0	0	1	0	0
WNT9B	7484	broad.mit.edu	37	17	44949961	44949961	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:44949961G>A	ENST00000393461.2	+	2	209	c.156G>A	c.(154-156)ctG>ctA	p.L52L	WNT9B_ENST00000290015.2_Silent_p.L52L			O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	52					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GGGCCCACCTGAAGCAGTGTG	0.701000													18	99					0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41510037	41510037	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:41510037C>T	ENST00000324071.4	+	2	310	c.303C>T	c.(301-303)atC>atT	p.I101I	CYP2B6_ENST00000593831.1_Silent_p.I25I|CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000330446.5_Silent_p.I61I	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	101					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GGGGAAAAATCGCCATGGTCG	0.622000													20	88					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51171321	51171321	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:51171321C>T	ENST00000440970.1	-	3	3817	c.3386G>A	c.(3385-3387)gGa>gAa	p.G1129E	SALL1_ENST00000541611.1_Missense_Mutation_p.G49E|SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000251020.4_Missense_Mutation_p.G1226E	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1226					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ATCCCCACTTCCTGATCTTGC	0.567000													8	19					0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1617042	1617042	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:1617042C>T	ENST00000381580.1	-	3	620	c.441G>A	c.(439-441)ctG>ctA	p.L147L	SIRPG_ENST00000303415.3_Silent_p.L180L|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Silent_p.L180L|SIRPG_ENST00000216927.4_Silent_p.L180L|RP11-77C3.3_ENST00000456177.1_RNA			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	180	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TGAACCATTTCAGGGTGATGT	0.577000													43	84					0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30095735	30095735	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:30095735G>A	ENST00000331968.5	-	12	1982	c.1753C>T	c.(1753-1755)Cct>Tct	p.P585S	PRKD1_ENST00000415220.2_Missense_Mutation_p.P593S	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	585	Protein kinase.		P -> S (in a metastatic melanoma sample; somatic mutation).		cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ACTTCATCAGGAAAAATCTGA	0.313000													11	53					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34011799	34011799	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:34011799C>T	ENST00000373381.4	-	57	9114	c.8938G>A	c.(8938-8940)Ggt>Agt	p.G2980S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2953	Sushi 22.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCAGGGTCACCGCAAACTCCC	0.562000													11	20					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657416	46657416	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:46657416C>T	ENST00000253255.5	-	1	1803	c.1804G>A	c.(1804-1806)Gat>Aat	p.D602N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	602	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CTGTGCAAATCAGAAACAATT	0.413000													21	90					0	0	1	0	0
TMEM56	148534	broad.mit.edu	37	1	95639398	95639398	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:95639398G>A	ENST00000370203.4	+	6	717	c.426G>A	c.(424-426)ggG>ggA	p.G142G	RP11-57H12.3_ENST00000421762.1_RNA|RP11-57H12.6_ENST00000604534.1_Silent_p.G142G	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN	transmembrane protein 56	142	TLC.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		CATACATTGGGAATTTTCGCC	0.353000													12	65					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35957389	35957389	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:35957389C>T	ENST00000274278.3	-	5	1333	c.976G>A	c.(976-978)Gga>Aga	p.G326R	UGT3A1_ENST00000503189.1_Missense_Mutation_p.G326R|UGT3A1_ENST00000507113.1_Missense_Mutation_p.G292R|UGT3A1_ENST00000513233.1_5'UTR	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	326						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATATCACTCCTTGAGGGAGG	0.507000													12	51					0	0	1	0	0
TRAV27	28655	broad.mit.edu	37	14	22616497	22616497	+	RNA	SNP	A	A	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:22616497A>G	ENST00000390457.2	+	0	335																											GAAGAGACTAACCTTTCAGTT	0.517000													19	38					0	0	1	0	0
CPSF1	29894	broad.mit.edu	37	8	145620234	145620234	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:145620234C>T	ENST00000349769.3	-	30	3371	c.3277G>A	c.(3277-3279)Gag>Aag	p.E1093K		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1093					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TCCTGCAGCTCGATCCTGTGG	0.672000													38	75					0	0	1	0	0
IGBP1	3476	broad.mit.edu	37	X	69370141	69370141	+	Missense_Mutation	SNP	A	A	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:69370141A>C	ENST00000342206.6	+	5	1339	c.840A>C	c.(838-840)ttA>ttC	p.L280F	IGBP1_ENST00000356413.4_Missense_Mutation_p.L280F			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	280					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						ATGGAGCATTACCGGATCAGG	0.468000													8	15					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413359	178413359	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:178413359G>A	ENST00000231188.5	-	8	2074	c.1896C>T	c.(1894-1896)ttC>ttT	p.F632F	GRM6_ENST00000517717.1_Silent_p.F632F|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	632					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CGTAGATGAGGAAGATGCCGG	0.662000													16	38					0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66433646	66433646	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:66433646G>A	ENST00000383703.3	-	16	2785	c.2182C>T	c.(2182-2184)Cag>Tag	p.Q728*	LRIG1_ENST00000273261.3_Nonsense_Mutation_p.Q751*|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_Intron			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	751	Ig-like C2-type 3.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ACCACGTTCTGAACCACCAGG	0.657000													14	76					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45701664	45701664	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:45701664C>T	ENST00000297323.7	+	8	1478	c.1456C>T	c.(1456-1458)Cca>Tca	p.P486S	ADCY1_ENST00000432715.1_Missense_Mutation_p.P261S	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	486					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	p.P486S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	ACAGATATTTCCAGGCCTGAT	0.488000													19	41					0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57996005	57996005	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:57996005C>T	ENST00000316770.2	-	1	385	c.343G>A	c.(343-345)Gac>Aac	p.D115N		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				AGGAAACAGTCCGTGCTGCCG	0.557000													10	42					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866214	131866214	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:131866214G>A	ENST00000359827.3	-	18	4380	c.3418C>T	c.(3418-3420)Ccc>Tcc	p.P1140S	PLXNA4_ENST00000321063.4_Missense_Mutation_p.P1140S			Q9HCM2	PLXA4_HUMAN	plexin A4	1140						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACCGGGTTGGGATAGTAGGTG	0.587000													29	252					0	0	1	0	0
GOLGA2P9	440518	broad.mit.edu	37	19	22785447	22785447	+	RNA	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:22785447G>A	ENST00000600260.1	+	0	1536					NR_033899.1																						GGACCTGAAAGAGCGGGTGGA	0.602000													25	88					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120277	38120277	+	Missense_Mutation	SNP	C	C	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:38120277C>G	ENST00000406386.3	+	7	1969	c.1714C>G	c.(1714-1716)Cga>Gga	p.R572G	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	572					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TAGAGCCACACGAGACAACCC	0.587000													15	157					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144994645	144994645	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:144994645G>A	ENST00000322810.4	-	32	9924	c.9755C>T	c.(9754-9756)tCc>tTc	p.S3252F	PLEC_ENST00000356346.3_Missense_Mutation_p.S3101F|PLEC_ENST00000357649.2_Missense_Mutation_p.S3119F|PLEC_ENST00000345136.3_Missense_Mutation_p.S3115F|PLEC_ENST00000527096.1_Missense_Mutation_p.S3138F|PLEC_ENST00000354589.3_Missense_Mutation_p.S3115F|PLEC_ENST00000398774.2_Missense_Mutation_p.S3083F|PLEC_ENST00000436759.2_Missense_Mutation_p.S3142F|PLEC_ENST00000354958.2_Missense_Mutation_p.S3093F	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3252	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGGAACAGGGAGACGCTCTG	0.657000													12	34					0	0	1	0	0
MGLL	11343	broad.mit.edu	37	3	127411060	127411060	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:127411060C>T	ENST00000434178.2	-	8	1789	c.893G>A	c.(892-894)gGa>gAa	p.G298E	MGLL_ENST00000265052.5_Missense_Mutation_p.G308E|MGLL_ENST00000453507.2_Missense_Mutation_p.G278E|MGLL_ENST00000398104.1_Missense_Mutation_p.G298E|MGLL_ENST00000398101.3_Missense_Mutation_p.G272E|MGLL_ENST00000476682.1_5'UTR			Q99685	MGLL_HUMAN	monoglyceride lipase	298					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						GGACGCAGTTCCTGCCGTGGC	0.567000													15	49					0	0	1	0	0
HIPK3	10114	broad.mit.edu	37	11	33361035	33361035	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:33361035C>T	ENST00000303296.4	+	6	1873	c.1568C>T	c.(1567-1569)cCt>cTt	p.P523L	HIPK3_ENST00000456517.1_Missense_Mutation_p.P523L|HIPK3_ENST00000379016.3_Missense_Mutation_p.P523L|HIPK3_ENST00000525975.1_Missense_Mutation_p.P523L	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	523	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CTGAACCATCCTTTTGTTAAT	0.333000													38	101					0	0	1	0	0
ASB10	136371	broad.mit.edu	37	7	150878096	150878096	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:150878096C>T	ENST00000422024.1	-	3	1294	c.1169G>A	c.(1168-1170)aGc>aAc	p.S390N	ASB10_ENST00000420175.2_Missense_Mutation_p.S345N|ASB10_ENST00000275838.1_Missense_Mutation_p.S345N|ASB10_ENST00000434669.1_Missense_Mutation_p.S390N|ASB10_ENST00000377867.3_Missense_Mutation_p.S330N	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	345					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGCTCGGGGCTCTGGGCCAG	0.687000													8	66					0	0	1	0	0
MIEF2	125170	broad.mit.edu	37	17	18167901	18167901	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:18167901C>T	ENST00000323019.4	+	4	1399	c.1188C>T	c.(1186-1188)gcC>gcT	p.A396A	SMCR7_ENST00000395706.2_Silent_p.A407A|SMCR7_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN		396						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					CGGAGGAGGCCTTGGGTGAGC	0.662000													16	75					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22171589	22171589	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:22171589G>A	ENST00000397126.4	-	2	274	c.126C>T	c.(124-126)ttC>ttT	p.F42F	ZNF208_ENST00000597040.1_Silent_p.F10F|ZNF208_ENST00000599916.1_Silent_p.F42F|ZNF208_ENST00000601773.1_Silent_p.F42F	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTCACCCAGGAAGACCAGGT	0.418000													21	123					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47835655	47835655	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:47835655C>T	ENST00000289672.2	-	55	8337	c.8287G>A	c.(8287-8289)Gaa>Aaa	p.E2763K	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2763					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGGACCTTTTCCCACATATAA	0.398000													16	116					0	0	1	0	0
PRKAG3	53632	broad.mit.edu	37	2	219695497	219695497	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:219695497C>T	ENST00000439262.2	-	3	221	c.126G>A	c.(124-126)gaG>gaA	p.E42E	PRKAG3_ENST00000529249.1_Silent_p.E67E|PRKAG3_ENST00000392098.3_Silent_p.E67E|PRKAG3_ENST00000545803.1_5'UTR	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	67					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTCCCCTTCCTCCACCGACT	0.617000													27	90					0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108072513	108072513	+	Missense_Mutation	SNP	G	G	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:108072513G>T	ENST00000357759.5	+	4	718	c.304G>T	c.(304-306)Ggg>Tgg	p.G102W	HHLA2_ENST00000491820.1_Missense_Mutation_p.G102W|HHLA2_ENST00000489514.2_Missense_Mutation_p.G102W|HHLA2_ENST00000467562.1_Intron|HHLA2_ENST00000467761.1_Missense_Mutation_p.G102W	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	102	Ig-like V-type 1.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						GATTCAAAATGGGAATGCGTC	0.398000													9	45					0.00448238	0.0044904	1	1	0
DSPP	1834	broad.mit.edu	37	4	88533577	88533577	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:88533577G>A	ENST00000399271.1	+	4	359	c.239G>A	c.(238-240)gGg>gAg	p.G80E	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.G80E	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	80					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AAGGGAGAAGGGAATGGCTCT	0.468000													9	22					0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187934	37187934	+	RNA	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:37187934C>T	ENST00000425901.2	+	0	1776					NR_033753.2																						CCTTTTCCAACCATGCAGAAG	0.488000													12	26					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784663	140784663	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140784663G>A	ENST00000573521.1	+	1	2144	c.2144G>A	c.(2143-2145)aGg>aAg	p.R715K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCCCTCAGGCTGAGGCAC	0.602000													31	68					0	0	1	0	0
LOC150776	150776	broad.mit.edu	37	2	132258981	132258981	+	RNA	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:132258981C>T	ENST00000438378.2	+	0	931					NR_026922.1																						CCTATTTCATCCTGGTGGACA	0.617000													7	24					0	0	1	0	0
KCNG2	26251	broad.mit.edu	37	18	77623902	77623902	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:77623902C>T	ENST00000316249.3	+	1	235	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	79					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GTGCGCCTTCCGCGCCATCGT	0.711000													4	13					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153692617	153692617	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:153692617C>T	ENST00000369682.3	+	8	1964	c.1789C>T	c.(1789-1791)Ccc>Tcc	p.P597S		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	597					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGCCCCTCACCCTCCCTCCA	0.697000													11	10					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10351212	10351212	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:10351212C>T	ENST00000255381.2	-	34	4998	c.4888G>A	c.(4888-4890)Gaa>Aaa	p.E1630K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1630					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGCTGGATTTCCATTTCATTA	0.453000													44	145					0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170232728	170232728	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:170232728G>A	ENST00000518525.1	+	8	1014	c.550G>A	c.(550-552)Gat>Aat	p.D184N	GABRP_ENST00000519385.1_Missense_Mutation_p.D184N|GABRP_ENST00000265294.4_Missense_Mutation_p.D184N|GABRP_ENST00000519598.1_Missense_Mutation_p.D184N			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	184						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGGGGCTATGATGGAAATGA	0.502000													7	28					0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20134933	20134933	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:20134933G>A	ENST00000379651.3	-	1	83	c.65C>T	c.(64-66)tCt>tTt	p.S22F	MAP7D2_ENST00000379643.5_Missense_Mutation_p.S22F|MAP7D2_ENST00000443379.3_Missense_Mutation_p.S22F	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	22										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CCCTGGGAGAGAGGTTCCCCG	0.726000													7	6					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1906863	1906863	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:1906863C>T	ENST00000399161.2	-	14	2768	c.2021G>A	c.(2020-2022)gGa>gAa	p.G674E	MYT1L_ENST00000428368.2_Missense_Mutation_p.G672E	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	674					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ATCATCATATCCTTTGGGGGA	0.423000													15	60					0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32712384	32712384	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:32712384G>A	ENST00000265074.8	+	1	845	c.502G>A	c.(502-504)Gac>Aac	p.D168N	NPR3_ENST00000415167.2_Missense_Mutation_p.D168N|NPR3_ENST00000415685.2_Intron|NPR3_ENST00000434067.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	168					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CCAGCACAAGGACTCTGAGTA	0.682000													36	114					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55534013	55534013	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:55534013G>A	ENST00000220676.1	+	2	635	c.487G>A	c.(487-489)Gac>Aac	p.D163N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	163	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CAGGAATGGCGACCCGAAGAC	0.662000													41	109					0	0	1	0	0
SFXN4	119559	broad.mit.edu	37	10	120914603	120914603	+	Silent	SNP	G	G	A	rs144336585	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:120914603G>A	ENST00000355697.2	-	11	722	c.703C>T	c.(703-705)Ctg>Ttg	p.L235L	SFXN4_ENST00000330036.6_Silent_p.L226L|SFXN4_ENST00000461438.1_5'UTR	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	235					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		GAATGACCCAGGACATTGCCT	0.468000													19	63					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12163817	12163817	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:12163817C>T	ENST00000379388.2	+	9	7612	c.7280C>T	c.(7279-7281)aCg>aTg	p.T2427M	HIVEP1_ENST00000541134.1_Missense_Mutation_p.T292M	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2427					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GTGCAGCTCACGATCCCTGCT	0.517000													42	71					0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52066965	52066965	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:52066965G>A	ENST00000361781.2	-	11	2138	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	SGMS1_ENST00000429490.1_Silent_p.F224F	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	399					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CTGGCCAGGGGAAAGGCCAAT	0.483000													12	36					0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51955852	51955852	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:51955852G>A	ENST00000321424.3	-	7	1347	c.1281C>T	c.(1279-1281)ccC>ccT	p.P427P	SIGLEC8_ENST00000430817.1_Silent_p.P318P|SIGLEC8_ENST00000340550.5_Silent_p.P334P	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	427					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCTTCTTCAGGGGGTTGCCAT	0.592000													12	35					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33592401	33592401	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:33592401G>A	ENST00000228567.3	-	1	353	c.57C>T	c.(55-57)atC>atT	p.I19I	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	19						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GCTCGGTGACGATGTGCAGAG	0.572000													47	170					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126240611	126240611	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:126240611C>T	ENST00000394329.3	+	1	3058	c.3045C>T	c.(3043-3045)ttC>ttT	p.F1015F		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1015	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F1015F(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATTCTCGATTCTTTAAAGTAC	0.393000													29	77					0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	56000536	56000536	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:56000536C>T	ENST00000313264.4	-	1	201	c.126G>A	c.(124-126)atG>atA	p.M42I		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGACATTCTTCATGTTGAAAT	0.358000													14	37					0	0	1	0	0
LAYN	143903	broad.mit.edu	37	11	111414666	111414666	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:111414666G>A	ENST00000375614.2	+	2	440	c.104G>A	c.(103-105)gGa>gAa	p.G35E	LAYN_ENST00000533265.1_Missense_Mutation_p.G35E|LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000375615.3_Missense_Mutation_p.G43E|LAYN_ENST00000525126.1_Missense_Mutation_p.G43E|LAYN_ENST00000436913.2_5'UTR	NM_178834.4	NP_849156.1	Q6UX15	LAYN_HUMAN	layilin	43						cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		GTCTGCCGGGGAGGGACACAG	0.493000													17	36					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11117571	11117571	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:11117571G>A	ENST00000304623.8	-	13	2457	c.2268C>T	c.(2266-2268)atC>atT	p.I756I	CTNND2_ENST00000503622.1_Silent_p.I419I|CTNND2_ENST00000458100.2_Silent_p.I323I|CTNND2_ENST00000359640.2_Silent_p.I756I|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Silent_p.I665I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	756					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.I756I(4)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CCTTGCTATCGATCTCACTGC	0.527000													31	84					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89401968	89401968	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:89401968C>T	ENST00000439576.2	+	12	6526	c.6152C>T	c.(6151-6153)tCt>tTt	p.S2051F	ACAN_ENST00000559004.1_Missense_Mutation_p.S2051F|ACAN_ENST00000352105.7_Missense_Mutation_p.S2051F|ACAN_ENST00000561243.1_Missense_Mutation_p.S2051F	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2051					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCAACTATTTCTCAGGAACTA	0.517000													7	26					0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	13959930	13959930	+	Silent	SNP	C	C	T	rs142136870		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:13959930C>T	ENST00000382080.1	-	7	1414	c.699G>A	c.(697-699)aaG>aaA	p.K233K	SGCZ_ENST00000421524.2_Silent_p.K186K	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	220					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TGCAGGTGGCCTTGAAGTCTC	0.522000													16	24					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42476338	42476338	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:42476338G>A	ENST00000434000.1	-	9	3155	c.2873C>T	c.(2872-2874)cCc>cTc	p.P958L	GPATCH8_ENST00000591680.1_Missense_Mutation_p.P1036L			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1036	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GAAATAGTGGGGGGACTGGGA	0.557000													15	55					0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24655658	24655658	+	Splice_Site	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:24655658C>T	ENST00000561419.1	-	11	1898		c.e11-1		IPO4_ENST00000354464.6_Splice_Site																							TCAGTAAGGCCTTGACAGAGA	0.542000													29	88					0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122618232	122618232	+	Silent	SNP	T	T	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:122618232T>C	ENST00000263461.6	+	3	522	c.276T>C	c.(274-276)aaT>aaC	p.N92N		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	92						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CTGATGTCAATGGGAAGATCA	0.468000													12	27					0	0	1	0	0
NEXN	91624	broad.mit.edu	37	1	78399088	78399088	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:78399088G>A	ENST00000330010.8	+	9	1280	c.983G>A	c.(982-984)cGa>cAa	p.R328Q	NEXN_ENST00000480732.1_3'UTR|NEXN_ENST00000457030.1_Missense_Mutation_p.R378Q|NEXN_ENST00000334785.7_Missense_Mutation_p.R392Q	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	392	Glu-rich.			K -> E (in Ref. 2; AAI14446).	regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GAAAAACGACGAACAGAGGAG	0.328000													7	17					0	0	1	0	0
ZNF200	7752	broad.mit.edu	37	16	3274321	3274321	+	Silent	SNP	A	A	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:3274321A>C	ENST00000431561.3	-	5	1371	c.759T>G	c.(757-759)acT>acG	p.T253T	AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000396871.4_Silent_p.T252T|ZNF200_ENST00000396868.3_Silent_p.T252T|ZNF200_ENST00000414144.2_Silent_p.T253T|ZNF200_ENST00000396870.4_Silent_p.T252T|ZNF200_ENST00000575948.1_Silent_p.T252T	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						ACAGTGGACAAGTGTACCATC	0.423000													21	64					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36182056	36182056	+	Missense_Mutation	SNP	C	C	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:36182056C>G	ENST00000357641.6	+	8	3135	c.2882C>G	c.(2881-2883)gCc>gGc	p.A961G	BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000534400.1_Missense_Mutation_p.A961G|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000543502.1_Intron	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	961					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GGCTCTCCTGCCTCTCCAGCC	0.607000													14	81					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50089776	50089776	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:50089776C>T	ENST00000376042.1	+	10	4078	c.3780C>T	c.(3778-3780)atC>atT	p.I1260I	CCNB3_ENST00000376038.1_Silent_p.I156I|CCNB3_ENST00000276014.7_Silent_p.I1260I|CCNB3_ENST00000348603.2_Silent_p.I156I			Q8WWL7	CCNB3_HUMAN	cyclin B3	1260					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ACATTCCCATCGCCTACCATT	0.433000													18	10					0	0	1	0	0
DNAH14	127602	broad.mit.edu	37	1	225155151	225155151	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:225155151G>A	ENST00000430092.1	+	6	732	c.517G>A	c.(517-519)Gga>Aga	p.G173R	DNAH14_ENST00000366849.1_Missense_Mutation_p.G173R|DNAH14_ENST00000366848.1_Missense_Mutation_p.G173R|DNAH14_ENST00000400952.3_Missense_Mutation_p.G173R|DNAH14_ENST00000439375.2_Missense_Mutation_p.G173R|DNAH14_ENST00000366850.3_Missense_Mutation_p.G173R	NM_001373.1	NP_001364.1	Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	300					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						GGAAGATGATGGAGAATTTGT	0.299000													60	108					0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65537058	65537058	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:65537058G>A	ENST00000310193.3	-	2	334	c.161C>T	c.(160-162)cCt>cTt	p.P54L		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	54					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TCCAAGATAAGGAAGCCAACC	0.373000													35	82					0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135776203	135776203	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:135776203G>A	ENST00000298552.3	-	20	2745	c.2524C>T	c.(2524-2526)Cag>Tag	p.Q842*	TSC1_ENST00000545250.1_Nonsense_Mutation_p.Q791*|TSC1_ENST00000440111.2_Nonsense_Mutation_p.Q842*	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	842					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		ATCTGCTGCTGGACCGACTCA	0.448000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				13	86					0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31598888	31598888	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:31598888C>T	ENST00000170150.3	+	3	363	c.168C>T	c.(166-168)ttC>ttT	p.F56F		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	56						extracellular region	lipid binding										TCCCTCATTTCCTGGACTGGA	0.622000													23	101					0	0	1	0	0
UGT1A3	54659	broad.mit.edu	37	2	234638020	234638020	+	Missense_Mutation	SNP	C	C	T	rs143192251		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:234638020C>T	ENST00000482026.1	+	1	267	c.248C>T	c.(247-249)tCg>tTg	p.S83L	UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A5_ENST00000373414.3_Intron	NM_019093.2	NP_061966.1														breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TATGCCATTTCGTGGACCCAG	0.468000													28	105					0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39674840	39674840	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:39674840G>A	ENST00000254043.3	-	1	3825	c.240C>T	c.(238-240)ggC>ggT	p.G80G	KRT15_ENST00000393974.3_5'UTR|KRT15_ENST00000393976.2_Silent_p.G80G	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	80	Gly-rich.|Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				cccctccaaagcctccaccga	0.557000													35	114					0	0	1	0	0
XAF1	54739	broad.mit.edu	37	17	6674145	6674145	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:6674145G>A	ENST00000361842.3	+	6	930	c.691G>A	c.(691-693)Gca>Aca	p.A231T	XAF1_ENST00000346752.4_Missense_Mutation_p.A212T|XAF1_ENST00000441631.1_Missense_Mutation_p.A231T	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	231					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						ATCAAAGAAAGCACCAAGAAG	0.423000													12	52					0	0	1	0	0
RETSAT	54884	broad.mit.edu	37	2	85571211	85571211	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:85571211G>A	ENST00000295802.4	-	9	1556	c.1444C>T	c.(1444-1446)Cgg>Tgg	p.R482W	RETSAT_ENST00000475624.2_Intron|RETSAT_ENST00000457495.2_Missense_Mutation_p.R421W|RETSAT_ENST00000263854.6_Intron	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	482					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TCACTGCCCCGCTTTCCCTTC	0.542000													15	59					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040381	103040381	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:103040381C>T	ENST00000264260.2	+	4	770	c.181C>T	c.(181-183)Cga>Tga	p.R61*	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	61					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	p.R61*(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CCACAGAAATCGACTCTCACC	0.418000													6	31					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13793828	13793828	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:13793828C>T	ENST00000265104.4	-	49	8124	c.8020G>A	c.(8020-8022)Gag>Aag	p.E2674K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2674	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGCACTATCTCATTCGTAACC	0.423000									Kartagener syndrome				9	64					0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9361804	9361804	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:9361804G>A	ENST00000456448.1	+	1	199	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						AGGTGTCTCAGAATTCCTCCT	0.502000													6	34					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15789169	15789169	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:15789169C>T	ENST00000550308.1	+	3	677	c.297C>T	c.(295-297)atC>atT	p.I99I	CYP4F12_ENST00000324632.9_Silent_p.I99I	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12									p.I99I(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					TCCCCTTCATCGTTTTATGCC	0.547000													36	124					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31918096	31918096	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:31918096G>A	ENST00000556679.1	+	24	3101	c.3046G>A	c.(3046-3048)Gct>Act	p.A1016T	CFB_ENST00000425368.2_Missense_Mutation_p.A514T|CFB_ENST00000477310.1_Missense_Mutation_p.A865T|CFB_ENST00000456570.1_Missense_Mutation_p.A1016T			P00751	CFAB_HUMAN	complement factor B	514					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CTGTATGGGGGCTGTGGTGTC	0.488000													32	38					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75799830	75799830	+	Silent	SNP	T	T	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:75799830T>C	ENST00000322507.8	-	63	9246	c.8937A>G	c.(8935-8937)gaA>gaG	p.E2979E	COL12A1_ENST00000483888.2_Silent_p.E2975E|COL12A1_ENST00000416123.2_Silent_p.E2903E|COL12A1_ENST00000511023.1_5'UTR|COL12A1_ENST00000345356.6_Silent_p.E1815E	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2979	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GCCTACCTCGTTCCCCAGGGG	0.592000													33	94					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219561836	219561836	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:219561836G>A	ENST00000295709.3	+	23	2940	c.2661G>A	c.(2659-2661)atG>atA	p.M887I	STK36_ENST00000440309.1_Missense_Mutation_p.M887I|STK36_ENST00000392106.2_Missense_Mutation_p.M866I|STK36_ENST00000392105.3_Missense_Mutation_p.M866I	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	887					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GCTTCTCCATGGTCCTGAGGC	0.557000													44	160					0	0	1	0	0
IGKV3-20	28912	broad.mit.edu	37	2	89442297	89442297	+	RNA	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:89442297C>T	ENST00000492167.1	-	0	159																											TGGCTCTTTCCCCTGGAGACA	0.522000													17	84					0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42083671	42083671	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:42083671C>T	ENST00000187608.9	+	2	224	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F	CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000407170.2_5'UTR|CEACAM21_ENST00000401445.2_Missense_Mutation_p.L62F	NM_001098506.1|NM_033543.3	NP_001091976.1|NP_291021.2	Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	62						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						GCCCGAGAATCTTTACAGCTA	0.502000													6	43					0	0	1	0	0
HSD11B1	3290	broad.mit.edu	37	1	209880365	209880365	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:209880365C>T	ENST00000367028.2	+	5	578	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	HSD11B1_ENST00000367027.3_Missense_Mutation_p.R137C|RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Missense_Mutation_p.R137C	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	137					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	TCACCATGTGCGCAAAAGCAT	0.453000													19	146					0	0	1	0	0
ZNF490	57474	broad.mit.edu	37	19	12721462	12721462	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:12721462C>T	ENST00000311437.6	-	1	155	c.33G>A	c.(31-33)atG>atA	p.M11I	ZNF490_ENST00000465656.1_Intron	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						GGGGTCGCTCCATCTGGAAAC	0.582000													14	53					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187123	140187123	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140187123C>T	ENST00000530339.1	+	1	351	c.351C>T	c.(349-351)ttC>ttT	p.F117F	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.F117F|PCDHA4_ENST00000356878.4_Silent_p.F117F|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGTTTTCCATGTGGACG	0.587000													30	117					0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15882950	15882950	+	RNA	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:15882950C>T	ENST00000587443.2	-	0	727					NR_033864.1																						CCTCTGAGGCCAGGTGCTGCC	0.562000													12	58					0	0	1	0	0
PSMC6	5706	broad.mit.edu	37	14	53185031	53185031	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:53185031C>T	ENST00000445930.2	+	9	724	c.718C>T	c.(718-720)Caa>Taa	p.Q240*	PSMC6_ENST00000606149.1_Nonsense_Mutation_p.Q226*			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	226					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					TAGAGATCATCAACCATGCAT	0.303000													7	48					0	0	1	0	0
SH2D1A	4068	broad.mit.edu	37	X	123504073	123504073	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:123504073C>T	ENST00000371139.4	+	3	548	c.249C>T	c.(247-249)ctC>ctT	p.L83L	SH2D1A_ENST00000470647.1_3'UTR|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000360027.4_Silent_p.L83L	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	83	SH2.				cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TAAAAAATCTCATTTCAGCAT	0.368000													26	38					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121720627	121720627	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:121720627C>T	ENST00000273691.3	-	4	569	c.464G>A	c.(463-465)gGa>gAa	p.G155E	ILDR1_ENST00000393631.1_Intron|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Missense_Mutation_p.G155E|ILDR1_ENST00000462014.1_Missense_Mutation_p.G167E	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	155	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		ATCGGGGTCTCCTGATGTGTC	0.483000													29	81					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179433100	179433100	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:179433100C>T	ENST00000589042.1	-	326	77983	c.77759G>A	c.(77758-77760)gGc>gAc	p.G25920D	TTN_ENST00000342175.6_Missense_Mutation_p.G17047D|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G23352D|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G16980D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G24279D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G16855D|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24279	Fibronectin type-III 88.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATTTGGCAGCCCCCTGTATA	0.408000													9	29					0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51504567	51504567	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:51504567C>T	ENST00000396402.1	-	9	1366	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	CYP19A1_ENST00000559878.1_Missense_Mutation_p.E405K|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000396404.4_Missense_Mutation_p.E405K|CYP19A1_ENST00000260433.2_Missense_Mutation_p.E405K	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	405					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	GGGAAAAACTCGAGTCTGTGC	0.403000													15	81					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203619	140203619	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140203619G>A	ENST00000529859.1	+	1	2259	c.2259G>A	c.(2257-2259)agG>agA	p.R753R	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.R753R|PCDHA5_ENST00000378126.3_Silent_p.R753R|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGCAGAGGAGACAGAGGG	0.632000													8	38					0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092892	30092892	+	RNA	SNP	A	A	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:30092892A>T	ENST00000567636.1	+	0	1267					NR_003558.1																						CTAAAGCAGAAAAACAATCAC	0.468000													4	25					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41648069	41648069	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr21:41648069C>T	ENST00000400454.1	-	11	2788	c.2311G>A	c.(2311-2313)Gat>Aat	p.D771N		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	771	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCGCCCACATCGTTGCTGACC	0.483000													18	48					0	0	1	0	0
PATL1	219988	broad.mit.edu	37	11	59420337	59420337	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:59420337G>A	ENST00000300146.9	-	10	1360	c.1276C>T	c.(1276-1278)Ccc>Tcc	p.P426S		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	426	Region H.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TCCAGGTAGGGATCAGTGCTT	0.408000													9	32					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25532221	25532221	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:25532221G>A	ENST00000269141.3	-	16	3040	c.2617C>T	c.(2617-2619)Ctt>Ttt	p.L873F	CDH2_ENST00000399380.3_Missense_Mutation_p.L842F	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	873	Ser-rich.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GAGGAATTAAGGGAGCTCAAG	0.512000											OREG0003876	type=REGULATORY REGION|Gene=CDH2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	25	88					0	0	1	0	0
LBR	3930	broad.mit.edu	37	1	225609969	225609969	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:225609969G>A	ENST00000338179.2	-	3	301	c.176C>T	c.(175-177)tCc>tTc	p.S59F	LBR_ENST00000272163.4_Missense_Mutation_p.S59F	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	59	Nucleoplasmic (Potential).				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		TTGCCTAAAGGAAGTTAAAGG	0.498000													4	43					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34192733	34192733	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:34192733G>A	ENST00000297161.2	+	16	2280	c.1906G>A	c.(1906-1908)Gat>Aat	p.D636N	BMPER_ENST00000426693.1_Missense_Mutation_p.D636N	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	636	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGCTGTGTACGATACCTGTGG	0.507000													50	170					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109794937	109794937	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:109794937C>T	ENST00000271332.3	+	1	2297	c.2236C>T	c.(2236-2238)Cgc>Tgc	p.R746C		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	746	Cadherin 6.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGAGAATGCCCGCATCACCTA	0.582000													6	31					0	0	1	0	0
CAMK2G	818	broad.mit.edu	37	10	75634154	75634154	+	Splice_Site	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:75634154C>T	ENST00000423381.1	-	1	189		c.e1+1		CAMK2G_ENST00000394762.2_Splice_Site|CAMK2G_ENST00000322635.3_Splice_Site|CAMK2G_ENST00000444854.2_Splice_Site|CAMK2G_ENST00000372765.1_Splice_Site|CAMK2G_ENST00000322680.3_Splice_Site|CAMK2G_ENST00000305762.7_Splice_Site|CAMK2G_ENST00000351293.3_Splice_Site|CAMK2G_ENST00000472912.1_Splice_Site	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma						insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					GCGGGCCGTACTTGCCAAGCT	0.771000													7	21					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17038955	17038955	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:17038955G>A	ENST00000443236.1	-	25	3406	c.3375C>T	c.(3373-3375)tcC>tcT	p.S1125S		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1078						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCCAGCCGGTGGAAAAGCCAA	0.597000													17	76					0	0	1	0	0
KIF9	64147	broad.mit.edu	37	3	47289519	47289519	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:47289519G>A	ENST00000335044.2	-	11	1474	c.1117C>T	c.(1117-1119)Cat>Tat	p.H373Y	KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000265529.3_Missense_Mutation_p.H373Y|KIF9_ENST00000444589.2_Missense_Mutation_p.H373Y|KIF9_ENST00000352910.4_Missense_Mutation_p.H280Y|KIF9_ENST00000452770.2_Missense_Mutation_p.H373Y	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	373					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGGCTGTCATGGATAGCCAGC	0.577000													33	193					0	0	1	0	0
PRTFDC1	56952	broad.mit.edu	37	10	25197464	25197464	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:25197464G>A	ENST00000376376.3	-	4	506	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W	RN7SKP241_ENST00000464584.2_RNA|PRTFDC1_ENST00000376378.1_Intron|PRTFDC1_ENST00000320152.6_Intron			Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	0					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						AACTGAAACCGGATGTGGAAA	0.498000													17	65					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20480968	20480968	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:20480968C>T	ENST00000573854.1	+	4	637	c.523C>T	c.(523-525)Cct>Tct	p.P175S	ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Missense_Mutation_p.P96S|ACSM2A_ENST00000424070.1_Missense_Mutation_p.P175S|ACSM2A_ENST00000575690.1_Missense_Mutation_p.P175S|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000219054.6_Missense_Mutation_p.P175S|ACSM2A_ENST00000396104.2_Missense_Mutation_p.P175S	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	175					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						ATCTGAATGTCCTTCTCTGAG	0.453000													44	143					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6206387	6206387	+	Missense_Mutation	SNP	C	C	T	rs150733401	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:6206387C>T	ENST00000262450.3	-	11	1786	c.1687G>A	c.(1687-1689)Ggc>Agc	p.G563S	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	563					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCGCTCTTGCCGTCTTCATCC	0.547000													13	48					0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117245849	117245849	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:117245849C>T	ENST00000332958.2	+	15	1589	c.1573C>T	c.(1573-1575)Cga>Tga	p.R525*		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	525					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	p.R525*(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TCATTTGATTCGAATGCTTCT	0.388000													16	39					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204394141	204394141	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:204394141C>T	ENST00000367187.3	-	34	5300	c.4744G>A	c.(4744-4746)Gac>Aac	p.D1582N	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.D1554N	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1582	C2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TGCTGCAGGTCACCCTTGGGG	0.572000													5	48					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654205	46654205	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:46654205C>T	ENST00000253255.5	-	1	5014	c.5015G>A	c.(5014-5016)aGg>aAg	p.R1672K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1672					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GTCATGTATCCTCTGCATTTC	0.403000													50	51					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32137634	32137634	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:32137634C>T	ENST00000312561.4	+	4	4159	c.3745C>T	c.(3745-3747)Cct>Tct	p.P1249S	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		AAGTCATTTTCCTGAACTACA	0.363000													8	51					0	0	1	0	0
FBF1	85302	broad.mit.edu	37	17	73916502	73916502	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:73916502G>A	ENST00000586717.1	-	17	1914	c.1641C>T	c.(1639-1641)ctC>ctT	p.L547L	FBF1_ENST00000389570.4_Silent_p.L547L|FBF1_ENST00000319129.5_Silent_p.L546L			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	546										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GGGACTCTGGGAGCAGGGGCT	0.632000													10	10					0	0	1	0	0
RFWD3	55159	broad.mit.edu	37	16	74670390	74670390	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:74670390G>A	ENST00000361070.4	-	8	1377	c.1280C>T	c.(1279-1281)tCc>tTc	p.S427F	RFWD3_ENST00000571750.1_Missense_Mutation_p.S427F	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	427					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						GCCCTGGCTGGAGGGTGAGCA	0.498000													11	32					0	0	1	0	0
SAFB2	9667	broad.mit.edu	37	19	5610021	5610021	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:5610021G>A	ENST00000252542.4	-	9	1545	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F	SAFB2_ENST00000591310.1_5'UTR	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	427	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CATACTTGCTGAAAAGGTTCT	0.552000													8	25					0	0	1	0	0
FGFR1	2260	broad.mit.edu	37	8	38271320	38271320	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:38271320C>T	ENST00000341462.5	-	18	3236	c.2295G>A	c.(2293-2295)gaG>gaA	p.E765E	FGFR1_ENST00000356207.5_Silent_p.E676E|FGFR1_ENST00000335922.5_Silent_p.E755E|FGFR1_ENST00000326324.6_Silent_p.E674E|FGFR1_ENST00000397091.5_Silent_p.E763E|FGFR1_ENST00000397113.2_Silent_p.E763E|FGFR1_ENST00000532791.1_Silent_p.E763E|FGFR1_ENST00000447712.2_Silent_p.E765E|FGFR1_ENST00000397108.4_Silent_p.E763E|FGFR1_ENST00000397103.1_Silent_p.E676E|FGFR1_ENST00000425967.3_Silent_p.E796E			P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	765	Protein kinase.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GGTCCAGGTACTCCTGTGATG	0.657000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						5	42					0	0	1	0	0
PHF13	148479	broad.mit.edu	37	1	6680248	6680248	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:6680248C>T	ENST00000377648.4	+	3	909	c.527C>T	c.(526-528)cCc>cTc	p.P176L	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	176					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		TCCGATACTCCCTCGAGTGGA	0.587000													7	29					0	0	1	0	0
ACAD9	28976	broad.mit.edu	37	3	128628208	128628208	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:128628208G>A	ENST00000308982.7	+	15	1588	c.1507G>A	c.(1507-1509)Gag>Aag	p.E503K	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	503						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CAAGTTTGAGGAGAACACCTA	0.587000													14	77					0	0	1	0	0
UBL7	84993	broad.mit.edu	37	15	74741550	74741550	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:74741550G>A	ENST00000567435.1	-	9	1322	c.859C>T	c.(859-861)Cac>Tac	p.H287Y	UBL7_ENST00000565335.1_Missense_Mutation_p.H287Y|UBL7_ENST00000564488.1_Missense_Mutation_p.H287Y|UBL7_ENST00000361351.4_Missense_Mutation_p.H287Y|UBL7_ENST00000395081.2_Missense_Mutation_p.H287Y			Q96S82	UBL7_HUMAN	ubiquitin-like 7 (bone marrow stromal cell-derived)	287							protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GTCGGTGTGTGAGAGCTGCTC	0.647000													8	56					0	0	1	0	0
MTFR1L	56181	broad.mit.edu	37	1	26158412	26158412	+	Splice_Site	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:26158412G>A	ENST00000374301.3	+	7	1082	c.773_splice	c.e7-1	p.L258_splice	MTFR1L_ENST00000474295.1_3'UTR|MTFR1L_ENST00000374300.3_Splice_Site_p.L258_splice|MTFR1L_ENST00000524618.1_Splice_Site_p.L161_splice|MTFR1L_ENST00000466284.1_3'UTR|MTFR1L_ENST00000469815.1_3'UTR|MTFR1L_ENST00000374307.5_Splice_Site_p.L246_splice|RP1-317E23.7_ENST00000606617.1_RNA|MTFR1L_ENST00000374303.2_Splice_Site_p.L258_splice	NM_019557.5	NP_062457.3			mitochondrial fission regulator 1-like																		GTGTCTCTAGGAACCGGAGTT	0.393000													23	134					0	0	1	0	0
SOCS5	9655	broad.mit.edu	37	2	46987054	46987054	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:46987054C>T	ENST00000306503.5	+	2	1557	c.1385C>T	c.(1384-1386)cCc>cTc	p.P462L	SOCS5_ENST00000394861.2_Missense_Mutation_p.P462L	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	462	SH2.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TATAAAGATCCCAGTTCGTGC	0.433000													16	84					0	0	1	0	0
OSR1	130497	broad.mit.edu	37	2	19552122	19552122	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:19552122C>T	ENST00000536433.1	-	2	3825	c.715G>A	c.(715-717)Gga>Aga	p.G239R	OSR1_ENST00000272223.2_Missense_Mutation_p.G239R			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	239					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				TGGCAGAATCCTTTCCCACAC	0.453000													19	85					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53073941	53073941	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:53073941G>A	ENST00000276480.7	-	14	2271	c.1588C>T	c.(1588-1590)Cct>Tct	p.P530S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	530						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTACATTCAGGAAATGGTGGT	0.433000													36	81					0	0	1	0	0
TERF2	7014	broad.mit.edu	37	16	69404473	69404473	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:69404473G>A	ENST00000254942.3	-	5	769	c.753C>T	c.(751-753)atC>atT	p.I251I	TERF2_ENST00000567296.2_Silent_p.I251I|TERF2_ENST00000603068.1_Silent_p.I209I|TERF2_ENST00000569611.2_5'UTR	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	209					age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				AAAAGTTCTGGATAACAGGAT	0.488000													16	46					0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71005895	71005895	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:71005895G>A	ENST00000354624.5	+	8	1069	c.936G>A	c.(934-936)aaG>aaA	p.K312K	HKDC1_ENST00000395086.2_Silent_p.K312K	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	312					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TCTTGCTGAAGATGGCCAAGG	0.542000													28	71					0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47944602	47944602	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:47944602C>T	ENST00000236877.6	-	5	2254	c.1859G>A	c.(1858-1860)gGg>gAg	p.G620E	SLC8A2_ENST00000542837.1_Missense_Mutation_p.G376E|SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000539381.1_Missense_Mutation_p.G83E	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	620					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		ACCTGAAATCCCTCGCTTAAG	0.517000													10	31					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173506150	173506150	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:173506150C>T	ENST00000367714.3	-	14	2008	c.1586G>A	c.(1585-1587)gGa>gAa	p.G529E	SLC9C2_ENST00000536496.1_Missense_Mutation_p.G427E|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	529					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TTCAAGAATTCCATTGTTACG	0.313000													25	158					0	0	1	0	0
FAM105B	90268	broad.mit.edu	37	5	14681702	14681702	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:14681702C>T	ENST00000284274.4	+	4	532	c.454C>T	c.(454-456)Ccg>Tcg	p.P152S		NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN	family with sequence similarity 105, member B	152										breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					GCTGCAGGACCCGGAGCTCAT	0.542000													5	26					0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114293157	114293157	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:114293157C>T	ENST00000309235.5	+	3	573	c.415C>T	c.(415-417)Cca>Tca	p.P139S	ZNF483_ENST00000355824.3_Missense_Mutation_p.P139S|ZNF483_ENST00000358151.4_Missense_Mutation_p.P139S	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	139					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						TTTCCTAGATCCAGTCTCTCA	0.338000													31	35					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108496545	108496545	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:108496545C>T	ENST00000408999.3	+	21	5123	c.5046C>T	c.(5044-5046)gtC>gtT	p.V1682V	RGPD4_ENST00000354986.4_Silent_p.V1682V	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1682					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CCAGTGCAGTCCTTATGGAGC	0.438000													35	142					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160104985	160104985	+	Missense_Mutation	SNP	C	C	T	rs145701604		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:160104985C>T	ENST00000361216.3	+	15	2104	c.2015C>T	c.(2014-2016)tCg>tTg	p.S672L	ATP1A2_ENST00000392233.3_Missense_Mutation_p.S672L|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	672					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GACATGACATCGGAGCAGCTC	0.577000													75	56					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55549782	55549782	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:55549782C>T	ENST00000436346.1	-	18	3885	c.3044G>A	c.(3043-3045)aGg>aAg	p.R1015K	AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.R1014K|CCDC88A_ENST00000336838.6_Missense_Mutation_p.R1014K|CCDC88A_ENST00000263630.8_Missense_Mutation_p.R1015K|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1015					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CTGTACCATCCTTTCCTCATC	0.343000													15	52					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22397561	22397561	+	Missense_Mutation	SNP	T	T	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:22397561T>C	ENST00000263160.3	+	10	1645	c.1208T>C	c.(1207-1209)gTt>gCt	p.V403A		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	403					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CTCCTGGTCGTTGGCTATTCT	0.378000													28	98					0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513111	99513111	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:99513111C>T	ENST00000261037.3	+	5	746	c.366C>T	c.(364-366)ccC>ccT	p.P122P	COL8A1_ENST00000273342.4_Silent_p.P122P	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	122	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						AACAAGGTCCCCGTGGAGAGC	0.532000													4	33					0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35449303	35449303	+	Silent	SNP	A	A	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:35449303A>G	ENST00000404801.1	-	4	1842	c.1456T>C	c.(1456-1458)Tta>Cta	p.L486L	ZNF792_ENST00000605484.1_Silent_p.L419L	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGGCTAAATAACTTCCCACAT	0.493000													16	54					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69682129	69682129	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:69682129C>T	ENST00000265403.7	+	1	419	c.392C>T	c.(391-393)tCa>tTa	p.S131L	UGT2B10_ENST00000458688.2_Missense_Mutation_p.S131L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	131					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GATGTAGTTTCAAATAAGAAA	0.328000													12	51					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79326149	79326149	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:79326149G>A	ENST00000376718.3	-	8	1164	c.1041C>T	c.(1039-1041)ctC>ctT	p.L347L	PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	347					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCTTGACAACGAGAACCACCT	0.547000													17	24					0	0	1	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247152	142247152	+	RNA	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:142247152C>T	ENST00000390361.3	-	0	353																											TCCCCCCGCTCTGTGCGCTGG	0.577000													12	45					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453137	140453137	+	Missense_Mutation	SNP	C	C	T	rs121913227		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:140453137C>T	ENST00000288602.6	-	15	1858	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CGAGATTTCACTGTAGCTAGA	0.363000	V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				66	51					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27366311	27366311	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:27366311G>A	ENST00000376087.4	-	9	1198	c.1033C>T	c.(1033-1035)Cca>Tca	p.P345S	ANKRD26_ENST00000466890.1_5'UTR|ANKRD26_ENST00000436985.2_Missense_Mutation_p.P394S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	345						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GAAGGTTTTGGAAGAAGGTCA	0.413000													45	106					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156816430	156816430	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:156816430G>A	ENST00000368195.3	-	8	2087	c.1691C>T	c.(1690-1692)tCc>tTc	p.S564F	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	564	Fibronectin type-III 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGCTTGAGGGAGGCTAGGGT	0.612000													11	105					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123095385	123095385	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:123095385C>T	ENST00000333479.7	+	53	5737	c.5560C>T	c.(5560-5562)Ctg>Ttg	p.L1854L	KNTC1_ENST00000537348.1_Silent_p.L279L|KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000450485.2_Silent_p.L779L	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1854					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GTATCTCCTCCTGTCTCGTCC	0.333000													6	22					0	0	1	0	0
SPRR2G	6706	broad.mit.edu	37	1	153122541	153122541	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:153122541G>A	ENST00000368748.4	-	2	84	c.46C>T	c.(46-48)Cct>Tct	p.P16S		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	16					keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGCACACAGGAGGTGGCTGG	0.572000													25	176					0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70721061	70721061	+	Nonsense_Mutation	SNP	G	G	A	rs143726522	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:70721061G>A	ENST00000226444.3	-	3	341	c.229C>T	c.(229-231)Cga>Tga	p.R77*		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	77					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity	p.R77*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						AAAGGTATTCGATTAAAAATT	0.308000													4	31					0	0	1	0	0
IFNA14	3448	broad.mit.edu	37	9	21239366	21239366	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:21239366C>T	ENST00000380222.2	-	1	612	c.569G>A	c.(568-570)tGa>tAa	p.*190*		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	0					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AACCAGTTTTCAATCCTTCCT	0.388000													38	107					0	0	1	0	0
CCM2L	140706	broad.mit.edu	37	20	30602799	30602799	+	Silent	SNP	G	G	A	rs145192423		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:30602799G>A	ENST00000300415.8	+	2	136	c.123G>A	c.(121-123)tcG>tcA	p.S41S	CCM2L_ENST00000262659.8_Silent_p.S41S					cerebral cavernous malformation 2-like																		CCCTGCACTCGATGCCCCTTT	0.642000													29	128					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120977966	120977966	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:120977966G>A	ENST00000273666.6	+	18	2180	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K	STXBP5L_ENST00000492541.1_Missense_Mutation_p.E637K|STXBP5L_ENST00000472879.1_Missense_Mutation_p.E637K|STXBP5L_ENST00000471454.1_Missense_Mutation_p.E637K|STXBP5L_ENST00000497029.1_Missense_Mutation_p.E637K	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	637					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GGTAGATGGTGAACCTCCACA	0.358000													11	32					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57864713	57864713	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:57864713G>A	ENST00000228682.2	+	12	2281	c.2190G>A	c.(2188-2190)ctG>ctA	p.L730L	GLI1_ENST00000546141.1_Silent_p.L689L|GLI1_ENST00000543426.1_Silent_p.L602L	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	730					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CTGATACTCTGGGATATGGGG	0.592000													24	106					0	0	1	0	0
ACMSD	130013	broad.mit.edu	37	2	135625235	135625235	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:135625235G>A	ENST00000356140.5	+	6	709	c.573G>A	c.(571-573)tgG>tgA	p.W191*	AC016725.4_ENST00000428857.1_RNA|AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000392928.1_Nonsense_Mutation_p.W133*|ACMSD_ENST00000283054.4_Nonsense_Mutation_p.W133*|AC016725.4_ENST00000413962.1_RNA|AC016725.4_ENST00000537615.1_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	191					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		GGCTCCCTTGGCTTGTAGGTT	0.478000													26	81					0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21216974	21216974	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:21216974C>T	ENST00000380216.1	-	1	336	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	111					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TGGAAAAGTTCAATGTAGAAT	0.488000													33	76					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149520464	149520464	+	RNA	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:149520464G>A	ENST00000378016.2	+	0	13282							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCTCCCTTTGAGTTCCATGC	0.652000													18	161					0	0	1	0	0
RNASEL	6041	broad.mit.edu	37	1	182555609	182555609	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:182555609G>A	ENST00000367559.3	-	2	586	c.333C>T	c.(331-333)ttC>ttT	p.F111F	RNASEL_ENST00000539397.1_Silent_p.F111F|RNASEL_ENST00000444138.1_Silent_p.F111F	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	111					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CTTTAGAAAGGAAAAGTTTCA	0.483000													31	28					0	0	1	0	0
SLC25A21	89874	broad.mit.edu	37	14	37194854	37194854	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:37194854C>T	ENST00000331299.5	-	6	874	c.359G>A	c.(358-360)gGa>gAa	p.G120E	SLC25A21_ENST00000555449.1_Missense_Mutation_p.G120E	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	120					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TTCTGTTAGTCCAGATCCCAA	0.348000													13	55					0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47505081	47505081	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:47505081G>A	ENST00000371901.3	+	8	1200	c.950G>A	c.(949-951)gGa>gAa	p.G317E	CYP4X1_ENST00000538609.1_Missense_Mutation_p.G316E|CYP4X1_ENST00000466294.1_3'UTR	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	317						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CTGTTGGCAGGACATGACACC	0.463000													33	76					0	0	1	0	0
COLEC11	78989	broad.mit.edu	37	2	3660912	3660912	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:3660912G>A	ENST00000403096.3	+	2	555	c.64G>A	c.(64-66)Gag>Aag	p.E22K	COLEC11_ENST00000236693.7_Silent_p.E18E|COLEC11_ENST00000418971.2_Missense_Mutation_p.E62K|COLEC11_ENST00000404205.1_Intron|COLEC11_ENST00000382062.2_Missense_Mutation_p.E48K|COLEC11_ENST00000487365.1_Intron|COLEC11_ENST00000349077.4_Missense_Mutation_p.E48K|COLEC11_ENST00000402922.1_Missense_Mutation_p.E22K|COLEC11_ENST00000402794.1_Intron	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	48						collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		GGATGCGGGAGAGAAGGGAGA	0.592000													4	19					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89171280	89171280	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:89171280C>T	ENST00000554922.1	-	13	2223	c.1975G>A	c.(1975-1977)Gag>Aag	p.E659K	EML5_ENST00000352093.5_Missense_Mutation_p.E659K|EML5_ENST00000380664.5_Missense_Mutation_p.E659K	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	659						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TTTTGTTTCTCTTTGCACTGT	0.318000													6	42					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140850162	140850162	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:140850162G>A	ENST00000371372.1	+	8	1228	c.1083G>A	c.(1081-1083)aaG>aaA	p.K361K	CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371357.1_Silent_p.K361K|CACNA1B_ENST00000371355.4_Silent_p.K361K|CACNA1B_ENST00000277551.2_Silent_p.K361K|CACNA1B_ENST00000371363.1_Silent_p.K361K	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	361					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AGTTTGCCAAGGAGCGAGAGA	0.607000													4	21					0	0	1	0	0
CHST11	50515	broad.mit.edu	37	12	105151081	105151081	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:105151081G>A	ENST00000303694.5	+	3	998	c.559G>A	c.(559-561)Gag>Aag	p.E187K	CHST11_ENST00000549260.1_Missense_Mutation_p.E182K	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	187					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GTTTGTCCGGGAGCCCTTCGA	0.537000													14	62					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22204957	22204957	+	Silent	SNP	G	G	A	rs143110975	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:22204957G>A	ENST00000374695.3	-	20	2665	c.2586C>T	c.(2584-2586)ccC>ccT	p.P862P		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	862	Laminin EGF-like 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGGGCTGGATGGGGTTGCCCT	0.682000													5	14					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238050775	238050775	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:238050775G>A	ENST00000366570.4	-	5	798	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	214	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGGGCCAAGCGCACAGAATCC	0.507000													20	113					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10435015	10435015	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:10435015C>T	ENST00000245503.5	-	22	3016	c.2632G>A	c.(2632-2634)Gaa>Aaa	p.E878K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E878K|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	878					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCTTCCAGTTCCTTCCTTTTT	0.423000													16	76					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184764624	184764624	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:184764624G>A	ENST00000367511.3	-	14	2467	c.2274C>T	c.(2272-2274)atC>atT	p.I758I	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	758	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TGTCGGGGTGGATGGCAGCTG	0.557000													53	409					0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472265	47472265	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:47472265C>T	ENST00000266581.4	-	2	987	c.521G>A	c.(520-522)gGa>gAa	p.G174E	AMIGO2_ENST00000550413.1_Missense_Mutation_p.G174E|AMIGO2_ENST00000429635.1_Missense_Mutation_p.G174E|AMIGO2_ENST00000321382.3_Missense_Mutation_p.G174E	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	174					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					GAGAAAATTTCCACTTAAGTA	0.413000													13	60					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075928	9075928	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:9075928G>A	ENST00000397910.4	-	3	11721	c.11518C>T	c.(11518-11520)Cca>Tca	p.P3840S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3841	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTGTGTGTGGGATCACATCC	0.502000													28	76					0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55032625	55032625	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:55032625C>T	ENST00000417545.2	+	2	380	c.294C>T	c.(292-294)ctC>ctT	p.L98L		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	82						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AAGCCAGTCTCTGGCTATTCC	0.453000													18	54					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40056421	40056421	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:40056421G>A	ENST00000336649.4	+	18	2695	c.2695G>A	c.(2695-2697)Gaa>Aaa	p.E899K	CACNA1I_ENST00000400164.3_Missense_Mutation_p.E858K|CACNA1I_ENST00000404898.1_Missense_Mutation_p.E858K|CACNA1I_ENST00000401624.1_Missense_Mutation_p.E893K|CACNA1I_ENST00000402142.3_Missense_Mutation_p.E893K|CACNA1I_ENST00000407673.1_Missense_Mutation_p.E858K			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	893					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TAAGCTCCAGGAAGGCCTGGA	0.572000													22	25					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128150694	128150694	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:128150694C>T	ENST00000368250.1	-	4	897	c.399G>A	c.(397-399)acG>acA	p.T133T	THEMIS_ENST00000543064.1_Silent_p.T212T|THEMIS_ENST00000537166.1_Silent_p.T177T|THEMIS_ENST00000368248.2_Silent_p.T212T			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	212	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GAAATGGATTCGTTGAGTCCC	0.353000													9	40					0	0	1	0	0
PGS1	9489	broad.mit.edu	37	17	76399844	76399844	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:76399844C>T	ENST00000262764.6	+	7	1102	c.1076C>T	c.(1075-1077)cCc>cTc	p.P359L	PGS1_ENST00000329897.7_Missense_Mutation_p.P224L|PGS1_ENST00000588281.1_3'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	359					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CAGATGAAGCCCTTCGAGATT	0.537000													21	96					0	0	1	0	0
CDCA2	157313	broad.mit.edu	37	8	25364920	25364920	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:25364920C>T	ENST00000330560.3	+	15	3215	c.2738C>T	c.(2737-2739)cCt>cTt	p.P913L	CDCA2_ENST00000380665.3_Missense_Mutation_p.P898L|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	913					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CTTCCACTTCCTTCCACTTCC	0.408000													59	148					0	0	1	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635335	122635335	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:122635335C>T	ENST00000249284.2	-	1	419	c.354G>A	c.(352-354)ctG>ctA	p.L118L		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	118					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTCTCCACCTCAGCCAGAGAA	0.393000													9	53					0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43571422	43571422	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:43571422C>T	ENST00000452443.2	-	11	1736	c.1732G>A	c.(1732-1734)Gac>Aac	p.D578N		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	578					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	AGCTTTTCGTCCGTTAGCTTG	0.527000													9	28					0	0	1	0	0
KRTAP5-9	3846	broad.mit.edu	37	11	71259894	71259894	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:71259894C>T	ENST00000528743.2	+	1	429	c.191C>T	c.(190-192)tCc>tTc	p.S64F		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	64	8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament		p.S64F(1)		kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						GGCTGTGGCTCCTGTGGGGGC	0.632000													47	170					0	0	1	0	0
GGA2	23062	broad.mit.edu	37	16	23504719	23504719	+	Missense_Mutation	SNP	G	G	A	rs143003037		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:23504719G>A	ENST00000309859.4	-	4	395	c.313C>T	c.(313-315)Cgt>Tgt	p.R105C	GGA2_ENST00000567468.1_Missense_Mutation_p.R105C	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	105	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TTCAGGAAACGAAATTTGGCC	0.552000													18	61					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51096504	51096504	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:51096504G>A	ENST00000395542.2	-	12	2719	c.2535C>T	c.(2533-2535)ccC>ccT	p.P845P	COBL_ENST00000265136.7_Silent_p.P763P			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	763										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTTTCCCAATGGGCTGAGATT	0.572000													31	41					0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1629800	1629800	+	Missense_Mutation	SNP	T	T	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:1629800T>G	ENST00000381580.1	-	2	408	c.229A>C	c.(229-231)Acc>Ccc	p.T77P	SIRPG_ENST00000303415.3_Missense_Mutation_p.T110P|SIRPG_ENST00000344103.4_Missense_Mutation_p.T110P|SIRPG_ENST00000381583.2_Missense_Mutation_p.T110P|SIRPG_ENST00000216927.4_Missense_Mutation_p.T110P			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	110	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TCTGCTGGGGTGATGCTACTG	0.478000													29	115					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185997694	185997694	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:185997694G>A	ENST00000265022.3	-	9	1277	c.738C>T	c.(736-738)gtC>gtT	p.V246V	DGKG_ENST00000544847.1_Silent_p.V246V|DGKG_ENST00000382164.4_Silent_p.V246V|DGKG_ENST00000344484.4_Silent_p.V246V	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	246	EF-hand 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TCCCTCCATGGACCCATTCCT	0.502000													30	102					0	0	1	0	0
EXD1	161829	broad.mit.edu	37	15	41476254	41476254	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:41476254C>T	ENST00000314992.5	-	10	1610	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	EXD1_ENST00000458580.2_Missense_Mutation_p.E532K	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	474					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						ACTCTGGTTTCCTGAGGAAAG	0.418000													18	74					0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148939590	148939590	+	Translation_Start_Site	SNP	T	T	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:148939590T>A	ENST00000264613.6	-	0	252					NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)						cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TTTTTTCCCCTTCTTGGAGCC	0.333000													8	27					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282254	152282254	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:152282254G>A	ENST00000368799.1	-	3	5143	c.5108C>T	c.(5107-5109)tCa>tTa	p.S1703L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1703	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTACAGATGAATCTTGTCT	0.572000									Ichthyosis				93	683					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113988200	113988200	+	Missense_Mutation	SNP	T	T	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:113988200T>A	ENST00000297405.5	-	7	1452	c.1208A>T	c.(1207-1209)aAt>aTt	p.N403I	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.N403I|CSMD3_ENST00000343508.3_Missense_Mutation_p.N363I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	403						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGACCTGAATTTCTGAGACT	0.493000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			54	78					0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67508588	67508588	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:67508588G>A	ENST00000382713.5	+	8	1155	c.965G>A	c.(964-966)gGa>gAa	p.G322E		NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	322							insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				AGCAGCTATGGATTCAGCTAC	0.552000													12	62					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876471	35876471	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:35876471C>T	ENST00000303115.3	+	8	1392	c.1263C>T	c.(1261-1263)ctC>ctT	p.L421L	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	421					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CATTTTCTCTCCAATCTGGAA	0.512000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						15	42					0	0	1	0	0
ZNF648	127665	broad.mit.edu	37	1	182026146	182026146	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:182026146G>A	ENST00000339948.3	-	2	1207	c.1000C>T	c.(1000-1002)Ccc>Tcc	p.P334S		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CACGGGTAGGGTTTCTCGCCT	0.632000													32	36					0	0	1	0	0
EIF4A1	1973	broad.mit.edu	37	17	7478546	7478546	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:7478546C>T	ENST00000293831.8	+	4	331	c.315C>T	c.(313-315)gtC>gtT	p.V105V	EIF4A1_ENST00000582746.1_Silent_p.V105V|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000577269.1_Silent_p.V105V|EIF4A1_ENST00000380512.5_Silent_p.V89V	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	105	Helicase ATP-binding.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						AGGCCTTGGTCCTAGCACCCA	0.488000													21	63					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43813627	43813627	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:43813627G>A	ENST00000382031.1	+	5	701	c.670G>A	c.(670-672)Gag>Aag	p.E224K	MAP1A_ENST00000300231.5_5'UTR|MAP1A_ENST00000399453.1_5'UTR			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	0						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CAGTTCCCAAGAGACCCTGCA	0.572000													23	82					0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46288494	46288494	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr13:46288494C>T	ENST00000378966.3	+	2	1642	c.1226C>T	c.(1225-1227)cCt>cTt	p.P409L	SPERT_ENST00000310521.1_Missense_Mutation_p.P445L			Q8NA61	SPERT_HUMAN	spermatid associated	445						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CCCAAGAAGCCTAGCAGGGTC	0.622000													5	6					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41711176	41711176	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr21:41711176G>A	ENST00000400454.1	-	7	1854	c.1377C>T	c.(1375-1377)atC>atT	p.I459I		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	459	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCTCCGACGTGATCATCTGGC	0.602000													18	54					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7645562	7645562	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:7645562C>T	ENST00000340209.4	+	5	792	c.495C>T	c.(493-495)ttC>ttT	p.F165F	RBFOX1_ENST00000550418.1_Silent_p.F160F|RBFOX1_ENST00000311745.5_Silent_p.F180F|RBFOX1_ENST00000422070.4_Silent_p.F203F|RBFOX1_ENST00000547338.1_Silent_p.F160F|RBFOX1_ENST00000547372.1_Silent_p.F203F|RBFOX1_ENST00000355637.4_Silent_p.F180F|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000436368.2_Silent_p.F180F|RBFOX1_ENST00000553186.1_Silent_p.F160F|RBFOX1_ENST00000552089.1_Silent_p.F177F			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	160	RRM.				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GATTTGGTTTCGTAACTTTCG	0.443000													18	85					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19186080	19186080	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:19186080C>T	ENST00000375371.3	-	1	96	c.75G>A	c.(73-75)tcG>tcA	p.S25S	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	25					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GGTAGAAGTCCGAGTTCTCAG	0.582000													16	79					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111758031	111758031	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:111758031G>A	ENST00000261726.6	+	17	2372	c.2218G>A	c.(2218-2220)Ggg>Agg	p.G740R		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	740						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GAGCCAGAACGGGGCCCCGGC	0.761000													3	8					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27456642	27456642	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:27456642C>T	ENST00000264705.4	+	21	3527	c.3365C>T	c.(3364-3366)cCc>cTc	p.P1122L	CAD_ENST00000403525.1_Missense_Mutation_p.P1059L	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1122	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AAAGAGCATCCCGTGGTCATC	0.592000													11	46					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198668750	198668750	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:198668750C>T	ENST00000367376.2	+	5	521	c.350C>T	c.(349-351)tCt>tTt	p.S117F	PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.S119F|PTPRC_ENST00000352140.3_Missense_Mutation_p.S117F|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000391970.3_3'UTR	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	117					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CAGACGCCCTCTGCTGGAACT	0.547000											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	101	168					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2818684	2818684	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:2818684C>T	ENST00000520002.1	-	63	10239	c.9684G>A	c.(9682-9684)caG>caA	p.Q3228Q	CSMD1_ENST00000602723.1_Silent_p.Q3051Q|CSMD1_ENST00000602557.1_Silent_p.Q3228Q|CSMD1_ENST00000400186.3_Silent_p.Q3051Q|CSMD1_ENST00000542608.1_Silent_p.Q3050Q|CSMD1_ENST00000537824.1_Silent_p.Q3227Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3228	Sushi 27.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGGAGCTATTCTGTATTCCAA	0.348000													10	12					0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49658331	49658331	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:49658331C>T	ENST00000249601.4	-	9	2137	c.1841G>A	c.(1840-1842)cGg>cAg	p.R614Q	ARHGAP22_ENST00000374170.1_Missense_Mutation_p.R455Q|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.R524Q|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.R620Q|ARHGAP22_ENST00000477708.2_Missense_Mutation_p.R447Q|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.R630Q|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.R505Q	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	614					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTACTCAGTCCGCTGGCGGCA	0.682000													6	13					0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102195860	102195860	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:102195860G>A	ENST00000306176.1	+	10	1195	c.1095G>A	c.(1093-1095)gaG>gaA	p.E365E	ZPLD1_ENST00000491959.1_Silent_p.E349E|ZPLD1_ENST00000466937.1_Silent_p.E349E	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	349						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CCTCAGATGAGACTCCAACCA	0.303000													12	49					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54920357	54920357	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:54920357C>T	ENST00000293373.6	+	21	2281	c.2202C>T	c.(2200-2202)atC>atT	p.I734I	NCKAP1L_ENST00000545638.2_Silent_p.I684I	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	734					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CCCAGGAGATCGTACGGCCTT	0.448000													20	52					0	0	1	0	0
GLP1R	2740	broad.mit.edu	37	6	39053697	39053697	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:39053697C>T	ENST00000373256.4	+	13	1283	c.1240C>T	c.(1240-1242)Cgg>Tgg	p.R414W		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	414					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled	p.R414W(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	GCTGGAATTTCGGAAGAGCTG	0.547000													40	199					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114031317	114031317	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:114031317C>T	ENST00000297405.5	-	6	1253	c.1009G>A	c.(1009-1011)Gga>Aga	p.G337R	CSMD3_ENST00000455883.2_Missense_Mutation_p.G337R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G337R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G297R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	337	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCACTAAATCCACGGTATCGA	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			30	73					0	0	1	0	0
CEP170B	283638	broad.mit.edu	37	14	105353778	105353778	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:105353778C>T	ENST00000453495.1	+	12	3433	c.3205C>T	c.(3205-3207)Cct>Tct	p.P1069S	CEP170B_ENST00000418279.1_Missense_Mutation_p.P998S|CEP170B_ENST00000556508.1_Missense_Mutation_p.P998S|CEP170B_ENST00000414716.3_Missense_Mutation_p.P1068S					centrosomal protein 170B																		CCACGAAACCCCTGAGGCCAC	0.692000													6	42					0	0	1	0	0
PI4KB	5298	broad.mit.edu	37	1	151280271	151280271	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:151280271G>A	ENST00000368875.2	-	5	1577	c.997C>T	c.(997-999)Cga>Tga	p.R333*	PI4KB_ENST00000368872.1_Nonsense_Mutation_p.R306*|PI4KB_ENST00000368873.1_Nonsense_Mutation_p.R321*|PI4KB_ENST00000368874.4_Nonsense_Mutation_p.R306*|PI4KB_ENST00000271657.5_Nonsense_Mutation_p.R333*|PI4KB_ENST00000529142.1_5'UTR	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	321					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGAGCCAGTCGAACAGGCTAC	0.547000													9	100					0	0	1	0	0
KHDC1	80759	broad.mit.edu	37	6	73951787	73951787	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:73951787G>A	ENST00000423730.3	-	3	721	c.286C>T	c.(286-288)Cat>Tat	p.H96Y	KHDC1_ENST00000370384.3_Missense_Mutation_p.H169Y|KHDC1_ENST00000257765.5_Missense_Mutation_p.H96Y																							CCTCGAGCATGATGATAGGAG	0.512000													9	16					0	0	1	0	0
MGEA5	10724	broad.mit.edu	37	10	103552598	103552598	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:103552598C>T	ENST00000361464.3	-	12	2568	c.2173G>A	c.(2173-2175)Gag>Aag	p.E725K	MGEA5_ENST00000439817.1_Missense_Mutation_p.E672K|MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000357797.5_Missense_Mutation_p.E658K	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	725	Histone acetyltransferase activity (By similarity).|Required for histone H4 binding (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		ACAATTACCTCATCCTTAGGA	0.398000													27	89					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809386	18809386	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:18809386C>T	ENST00000400664.1	+	1	1963	c.1911C>T	c.(1909-1911)ttC>ttT	p.F637F		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	637						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAAATCTTCGTCACCGGCG	0.716000													5	17					0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36614757	36614757	+	Missense_Mutation	SNP	T	T	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:36614757T>C	ENST00000311485.3	-	2	1123	c.962A>G	c.(961-963)aAc>aGc	p.N321S		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	321					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				ATTTCCCATGTTGCTTCCAAA	0.388000									Familial Hemophagocytic Lymphohistiocytosis				44	159					0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74313371	74313371	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:74313371G>A	ENST00000395792.2	+	8	1136	c.1036G>A	c.(1036-1038)Gaa>Aaa	p.E346K	AFP_ENST00000226359.2_Missense_Mutation_p.E346K	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	346	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTCTTCAGGGGAAAAAAATAT	0.338000									Alpha-Fetoprotein, Hereditary Persistence of				5	21					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42479896	42479896	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:42479896C>T	ENST00000545399.1	-	16	2340	c.2187G>A	c.(2185-2187)aaG>aaA	p.K729K	ATP1A3_ENST00000543770.1_Silent_p.K727K|ATP1A3_ENST00000302102.5_Silent_p.K716K|ATP1A3_ENST00000602133.1_Silent_p.K686K	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	716					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TGTCGGCCTTCTTCAGAGCGG	0.602000													28	121					0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68552399	68552399	+	Silent	SNP	A	A	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:68552399A>G	ENST00000265641.5	-	10	1201	c.1047T>C	c.(1045-1047)caT>caC	p.H349H	CPT1A_ENST00000376618.2_Silent_p.H349H|CPT1A_ENST00000540367.1_Silent_p.H349H|CPT1A_ENST00000539743.1_Silent_p.H349H	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	349					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GCCGCCCATCATGGTAGAGCC	0.622000													10	43					0	0	1	0	0
KDELR1	10945	broad.mit.edu	37	19	48892884	48892884	+	Missense_Mutation	SNP	A	A	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:48892884A>G	ENST00000597017.1	-	2	516	c.91T>C	c.(91-93)Ttc>Ctc	p.F31L	KDELR1_ENST00000330720.2_Missense_Mutation_p.F93L			P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	93					intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		TCCACTCTGAACGTGTCATGG	0.522000													19	75					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13944521	13944521	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:13944521G>A	ENST00000265104.4	-	1	131	c.27C>T	c.(25-27)ctC>ctT	p.L9L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	9	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TATGCTTCCAGAGCTGTCTCC	0.488000									Kartagener syndrome				20	45					0	0	1	0	0
CASP4	837	broad.mit.edu	37	11	104820331	104820331	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:104820331G>A	ENST00000444739.2	-	5	1630	c.720C>T	c.(718-720)aaC>aaT	p.N240N	CASP4_ENST00000393150.3_Silent_p.N184N	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	240					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		GGCAGTTGCGGTTGTTGAATA	0.478000													21	62					0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303507	151303507	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:151303507G>A	ENST00000370323.4	-	4	902	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S	MAGEA10_ENST00000244096.3_Missense_Mutation_p.P196S|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	196	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCAGTGGGATCCACTTCC	0.493000													12	18					0	0	1	0	0
RPL12	6136	broad.mit.edu	37	9	130210242	130210242	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:130210242C>T	ENST00000361436.5	-	6	493	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	RPL12_ENST00000536368.1_Missense_Mutation_p.A103T|RPL12_ENST00000497322.1_5'UTR	NM_000976.3	NP_000967.1	P30050	RL12_HUMAN	ribosomal protein L12	136					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						ACTGACTGGGCAGTCCCCAGG	0.493000													17	50					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107016580	107016580	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:107016580C>T	ENST00000369701.3	+	25	3568	c.3341C>T	c.(3340-3342)cCa>cTa	p.P1114L		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1114						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TTCCAAGCTCCATTGGTGGAC	0.453000													8	26					0	0	1	0	0
PTGER4	5734	broad.mit.edu	37	5	40692317	40692317	+	Missense_Mutation	SNP	G	G	A	rs138674524		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:40692317G>A	ENST00000302472.3	+	3	2328	c.1304G>A	c.(1303-1305)cGa>cAa	p.R435Q		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	435					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						AGGACTTTGCGAATATCAGAG	0.582000													4	26					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219561883	219561883	+	Missense_Mutation	SNP	C	C	T	rs141444996		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:219561883C>T	ENST00000295709.3	+	23	2987	c.2708C>T	c.(2707-2709)tCg>tTg	p.S903L	STK36_ENST00000440309.1_Missense_Mutation_p.S903L|STK36_ENST00000392106.2_Missense_Mutation_p.S882L|STK36_ENST00000392105.3_Missense_Mutation_p.S882L	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	903					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GGGGAGCTTTCGCTATCCAGT	0.527000													32	103					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452578	138452578	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:138452578C>T	ENST00000344876.4	-	1	1051	c.665G>A	c.(664-666)gGa>gAa	p.G222E	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.G222E|PCDH18_ENST00000507846.1_Missense_Mutation_p.G2E|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	222	Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CTGAGGTACTCCCATGTCTGA	0.458000													18	53					0	0	1	0	0
C2orf80	389073	broad.mit.edu	37	2	209045498	209045498	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:209045498C>T	ENST00000341287.4	-	6	532	c.337G>A	c.(337-339)Gat>Aat	p.D113N	C2orf80_ENST00000451346.1_Missense_Mutation_p.D94N|C2orf80_ENST00000453017.1_Missense_Mutation_p.D113N	NM_001099334.2	NP_001092804.1	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	113										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						GCAGAAGAATCAGCCCCATAA	0.338000													20	54					0	0	1	0	0
CCAR2	57805	broad.mit.edu	37	8	22472972	22472972	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:22472972G>A	ENST00000308511.4	+	12	1489	c.1240G>A	c.(1240-1242)Gga>Aga	p.G414R	RP11-582J16.5_ENST00000521025.1_RNA|KIAA1967_ENST00000520861.1_Missense_Mutation_p.G89R|KIAA1967_ENST00000389279.3_Missense_Mutation_p.G414R			Q8N163	K1967_HUMAN		414					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CCTGCAGCCGGGACCCCCCCG	0.582000													45	101					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19455440	19455440	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:19455440C>T	ENST00000396229.2	+	4	1575	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	TMC5_ENST00000381414.4_Missense_Mutation_p.R276C|TMC5_ENST00000542583.2_Missense_Mutation_p.R276C|TMC5_ENST00000541464.1_Missense_Mutation_p.R276C	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	276						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCCCTCATTTCGTCACAGGAG	0.463000													23	56					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343781	248343781	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:248343781C>T	ENST00000359682.2	+	1	494	c.494C>T	c.(493-495)tCc>tTc	p.S165F		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCACATTTTCCTTCTCCTTT	0.423000													157	274					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121976029	121976029	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:121976029G>A	ENST00000498619.1	+	3	725	c.287G>A	c.(286-288)aGg>aAg	p.R96K	CASR_ENST00000296154.5_Missense_Mutation_p.R96K|CASR_ENST00000490131.1_Missense_Mutation_p.R96K	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	96					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTGGGATACAGGATATTTGAC	0.443000													17	82					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1049425	1049425	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:1049425G>A	ENST00000263094.6	+	18	2772	c.2541G>A	c.(2539-2541)aaG>aaA	p.K847K	ABCA7_ENST00000435683.2_Silent_p.K709K|ABCA7_ENST00000433129.1_Silent_p.K847K	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	847	ABC transporter 1.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCCGGCAAGACCACCACCC	0.716000													14	38					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525570	176525570	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:176525570G>A	ENST00000367662.3	+	2	1276	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	PAPPA2_ENST00000367661.3_Missense_Mutation_p.E38K	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	38					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGTTGAGAGGGAACACCTGAA	0.527000													112	88					0	0	1	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186901996	186901996	+	Missense_Mutation	SNP	T	T	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:186901996T>G	ENST00000367466.3	+	8	812	c.660T>G	c.(658-660)tgT>tgG	p.C220W	PLA2G4A_ENST00000466600.1_Intron|PLA2G4A_ENST00000442353.2_Missense_Mutation_p.C160W	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	220	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TTCTGGATTGTGCTACCTACG	0.408000													20	185					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772720	4772720	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:4772720G>A	ENST00000378191.4	+	2	1171	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	AJAP1_ENST00000378190.3_Missense_Mutation_p.E264K	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	264					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CAACAACGGGGAAGTCACCCA	0.607000													25	132					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119129970	119129970	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:119129970C>T	ENST00000328252.3	+	19	4911	c.4542C>T	c.(4540-4542)atC>atT	p.I1514I	PAPPA_ENST00000534838.1_Silent_p.I552I	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1514	Sushi 5.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GCGAGTCCATCATCCTGCCAA	0.607000													7	22					0	0	1	0	0
TRAF4	9618	broad.mit.edu	37	17	27075074	27075074	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:27075074C>T	ENST00000262395.5	+	4	469	c.340C>T	c.(340-342)Cct>Tct	p.P114S	TRAF4_ENST00000444415.3_Missense_Mutation_p.P114S|TRAF4_ENST00000262396.6_Missense_Mutation_p.P114S	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	114					apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			CATTCCCTGCCCTAATCGCTG	0.587000													13	70					0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220432650	220432650	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:220432650C>T	ENST00000404537.1	-	3	1380	c.1324G>A	c.(1324-1326)Gaa>Aaa	p.E442K	OBSL1_ENST00000289656.3_Missense_Mutation_p.E29K|OBSL1_ENST00000373876.1_Missense_Mutation_p.E442K|OBSL1_ENST00000603926.1_Missense_Mutation_p.E442K|OBSL1_ENST00000265318.4_Missense_Mutation_p.E442K|OBSL1_ENST00000373873.4_Missense_Mutation_p.E442K	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	442					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TTCTCTCCTTCCAGGACGTCG	0.632000													10	31					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38631905	38631905	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:38631905C>T	ENST00000222345.6	+	11	3734	c.3225C>T	c.(3223-3225)ccC>ccT	p.P1075P		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1075					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCGGCCCCCCTACCGCAGCA	0.632000													23	99					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41033174	41033174	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:41033174G>A	ENST00000399564.4	-	23	2780	c.2330C>T	c.(2329-2331)tCc>tTc	p.S777F	MROH2B_ENST00000506092.2_Missense_Mutation_p.S332F	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CTCCTTGTAGGAAAACTGGAA	0.448000													6	30					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348413	140348413	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140348413C>T	ENST00000289269.5	+	1	2594	c.2062C>T	c.(2062-2064)Ctc>Ttc	p.L688F	PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		688	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCAAAATCCTCCCTGACAC	0.438000													11	45					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16255422	16255422	+	Splice_Site	SNP	C	C	T	rs72664210		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:16255422C>T	ENST00000205557.7	-	25	3536		c.e25-1			NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6						response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CGCAAGCCACCTGCAAAGGGA	0.582000													10	32					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33680369	33680369	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:33680369C>T	ENST00000394566.1	-	6	2180	c.1908G>A	c.(1906-1908)ctG>ctA	p.L636L	SLFN11_ENST00000308377.4_Silent_p.L636L	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	636						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TAAAGTTCCTCAGAGGCTGGT	0.403000													18	83					0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63149688	63149688	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:63149688C>T	ENST00000279178.3	+	6	1261	c.1012C>T	c.(1012-1014)Ctg>Ttg	p.L338L	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	338					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AAAACCTTCTCTGTGTGAAAT	0.388000													27	92					0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43855000	43855000	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr21:43855000G>A	ENST00000319294.6	+	10	1360	c.1329G>A	c.(1327-1329)ggG>ggA	p.G443G	UBASH3A_ENST00000291535.6_Silent_p.G405G|UBASH3A_ENST00000398367.1_Silent_p.G405G	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	443	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GGAGTCGTGGGATCAAAGACT	0.438000													27	70					0	0	1	0	0
SYT2	127833	broad.mit.edu	37	1	202566040	202566040	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:202566040C>T	ENST00000367267.1	-	9	1297	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	SYT2_ENST00000367268.4_Missense_Mutation_p.E369K	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	369	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	CCTATGGCTTCGTTCTTGCCC	0.607000													62	80					0	0	1	0	0
TTC26	79989	broad.mit.edu	37	7	138863333	138863333	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:138863333G>A	ENST00000464848.1	+	14	1311	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K	TTC26_ENST00000430935.1_Missense_Mutation_p.E411K|TTC26_ENST00000478836.2_Missense_Mutation_p.E304K|TTC26_ENST00000343187.4_Missense_Mutation_p.E380K|TTC26_ENST00000495038.1_Missense_Mutation_p.E280K			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	411							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						CAATACCAGTGAGGGCGAAGA	0.378000													10	71					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52370060	52370060	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:52370060G>A	ENST00000356297.4	-	9	1080	c.980C>T	c.(979-981)cCa>cTa	p.P327L	PXDNL_ENST00000543296.1_Missense_Mutation_p.P327L	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	327					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGTTTTACCTGGAAGACTGGA	0.403000													14	48					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17742434	17742434	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:17742434G>A	ENST00000380060.3	+	5	1399	c.1061G>A	c.(1060-1062)aGa>aAa	p.R354K	NHS_ENST00000398097.3_Missense_Mutation_p.R198K|NHS_ENST00000485305.1_3'UTR	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	354						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GGCTTTGACAGAGAGGCTAGT	0.438000													18	32					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65408298	65408298	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:65408298C>T	ENST00000519389.1	+	5	1064	c.885C>T	c.(883-885)ctC>ctT	p.L295L	HEPH_ENST00000441993.2_Silent_p.L244L|HEPH_ENST00000374727.3_Silent_p.L244L|HEPH_ENST00000336279.5_5'UTR|HEPH_ENST00000343002.2_Silent_p.L241L|HEPH_ENST00000419594.1_Silent_p.L244L			Q9BQS7	HEPH_HUMAN	hephaestin	241	Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GCTGGCATCTCAATGAGAACA	0.488000													6	12					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82817297	82817297	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:82817297G>A	ENST00000265077.3	+	7	3737	c.3172G>A	c.(3172-3174)Gag>Aag	p.E1058K	VCAN_ENST00000342785.4_Missense_Mutation_p.E1058K|VCAN_ENST00000512590.2_Missense_Mutation_p.E1010K|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1058	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GACTCCCAAGGAGGCAGTAAC	0.463000													10	43					0	0	1	0	0
MSANTD1	345222	broad.mit.edu	37	4	3251111	3251111	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:3251111C>T	ENST00000438480.2	+	1	1909	c.162C>T	c.(160-162)ctC>ctT	p.L54L	MSANTD1_ENST00000510580.1_Silent_p.L54L|MSANTD1_ENST00000507492.1_Silent_p.L41L	NM_001042690.1	NP_001036155.1	Q6ZTZ1	CD044_HUMAN	Myb/SANT-like DNA-binding domain containing 1	54										endometrium(1)|lung(2)	3						TGCGCGGCCTCATGCTGGTCT	0.677000													6	7					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134093	128134093	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:128134093C>T	ENST00000368250.1	-	5	1954	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K	THEMIS_ENST00000543064.1_Missense_Mutation_p.E565K|THEMIS_ENST00000537166.1_Missense_Mutation_p.E530K|THEMIS_ENST00000368248.2_Missense_Mutation_p.E565K			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	565	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AACTTTGTTTCCTCTACTGAG	0.483000													35	89					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20668389	20668389	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:20668389C>T	ENST00000404938.2	+	4	839	c.187C>T	c.(187-189)Cct>Tct	p.P63S		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	262	ABC transporter 1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGCCTGCCTTCCTTTAATGCC	0.423000													6	20					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61510880	61510880	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:61510880G>A	ENST00000266070.4	-	16	6753	c.6428C>T	c.(6427-6429)tCc>tTc	p.S2143F	DIDO1_ENST00000395343.1_Missense_Mutation_p.S2143F	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2143	Arg-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					gtcccggctggagtccttgtc	0.726000													11	42					0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145633213	145633213	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:145633213G>A	ENST00000296575.3	+	8	2068	c.1413G>A	c.(1411-1413)ggG>ggA	p.G471G		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	471						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	p.G471G(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TAATAAAGGGGAAAGATTATG	0.313000													23	64					0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88703833	88703833	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:88703833G>A	ENST00000372027.4	-	6	781	c.708C>T	c.(706-708)ttC>ttT	p.F236F		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	236						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GCACTTGTAGGAAGGTGTCCA	0.547000													11	51					0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5345040	5345040	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:5345040G>A	ENST00000328813.2	-	1	542	c.488C>T	c.(487-489)tCa>tTa	p.S163L	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATATGAAAATGAAAAAAGACG	0.398000													28	67					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90103462	90103462	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:90103462C>T	ENST00000405460.2	+	73	14976	c.14880C>T	c.(14878-14880)ttC>ttT	p.F4960F	GPR98_ENST00000425867.2_Silent_p.F621F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4960					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGGAGTTTTCCTGTGGACGT	0.468000													10	23					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531996	50531996	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:50531996C>T	ENST00000374144.3	+	3	1694	c.1406C>T	c.(1405-1407)cCa>cTa	p.P469L	C10orf71_ENST00000323868.4_Missense_Mutation_p.P469L			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	469										endometrium(1)	1						GAGCGAACCCCATCACCCCCA	0.547000													8	47					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058007	152058007	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:152058007C>T	ENST00000368806.1	-	3	2215	c.2151G>A	c.(2149-2151)caG>caA	p.Q717Q		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	717							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ACAGAGTATTCTGGGCCTCTG	0.438000													40	188					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53958320	53958320	+	RNA	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:53958320C>T	ENST00000454407.1	+	0	1012							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GCCCAAAACCCATATATCTAA	0.363000													19	84					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33905432	33905432	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:33905432C>T	ENST00000389232.4	+	19	2283	c.2213C>T	c.(2212-2214)tCg>tTg	p.S738L	RYR3_ENST00000415757.3_Missense_Mutation_p.S738L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	738	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTCCTGAGATCGGATGACGTG	0.572000													4	23					0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100341910	100341910	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:100341910C>T	ENST00000437033.2	-	6	1108	c.605G>A	c.(604-606)gGa>gAa	p.G202E	ADH7_ENST00000209665.4_Missense_Mutation_p.G214E|ADH7_ENST00000476959.1_Missense_Mutation_p.G222E|ADH7_ENST00000482593.1_Missense_Mutation_p.G145E			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	214					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	CAGGCCAACTCCTCCCAGGCC	0.473000													14	38					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67255937	67255937	+	Splice_Site	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:67255937G>A	ENST00000392676.3	-	28	3705	c.3639_splice	c.e28-1	p.P1214_splice	ABCA5_ENST00000392677.2_Splice_Site_p.P1215_splice|ABCA5_ENST00000588877.1_Splice_Site_p.P1214_splice			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1214					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CTGCAGGTAAGGCTAAAAGAA	0.353000													4	24					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24551732	24551732	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:24551732C>T	ENST00000535378.1	-	21	3585	c.2943G>A	c.(2941-2943)agG>agA	p.R981R	KIAA0319_ENST00000378214.3_Silent_p.R990R|KIAA0319_ENST00000430948.2_Silent_p.R945R|KIAA0319_ENST00000543707.1_Silent_p.R990R|KIAA0319_ENST00000537886.1_Intron	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	990					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TTGTTTTTTTCCTGATTTTAG	0.398000													11	29					0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5011056	5011056	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:5011056C>T	ENST00000380390.1	+	3	494	c.278C>T	c.(277-279)tCg>tTg	p.S93L	MMP26_ENST00000477339.1_3'UTR|MMP26_ENST00000300762.1_Missense_Mutation_p.S93L			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	93					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		ACCTCCATCTCGCCAGGAAGA	0.517000													6	27					0	0	1	0	0
ACKR2	1238	broad.mit.edu	37	3	42906852	42906852	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:42906852C>T	ENST00000422265.1	+	3	1033	c.858C>T	c.(856-858)gtC>gtT	p.V286V	ACKR2_ENST00000471537.1_Intron|ACKR2_ENST00000273145.2_Silent_p.V286V|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000442925.1_Silent_p.V286V|KRBOX1_ENST00000426937.1_Intron	NM_001296.4	NP_001287.2			atypical chemokine receptor 2																		ACTGTGAGGTCAGCCAGCATC	0.532000													56	189					0	0	1	0	0
PRPSAP2	5636	broad.mit.edu	37	17	18785943	18785943	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:18785943C>T	ENST00000268835.2	+	7	758	c.475C>T	c.(475-477)Cct>Tct	p.P159S	PRPSAP2_ENST00000419071.2_Missense_Mutation_p.P119S|PRPSAP2_ENST00000536323.1_Missense_Mutation_p.P73S|PRPSAP2_ENST00000542013.1_Missense_Mutation_p.P159S	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	159					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						CTTCAATATTCCTGTTGACAA	0.318000													42	161					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149497220	149497220	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:149497220G>A	ENST00000261799.4	-	22	3567	c.3098C>T	c.(3097-3099)gCt>gTt	p.A1033V		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	1033					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCCCTCGTCAGCAACCTCGGG	0.602000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								17	61					0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85992449	85992449	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:85992449C>T	ENST00000372105.3	-	4	1127	c.1106G>A	c.(1105-1107)gGg>gAg	p.G369E		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	369						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						AGCAGCTTCCCCTCCGCCACC	0.582000													3	20					0	0	1	0	0
KIRREL	55243	broad.mit.edu	37	1	158059362	158059362	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:158059362G>A	ENST00000368172.1	+	5	569	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	KIRREL_ENST00000359209.6_Missense_Mutation_p.R372Q|KIRREL_ENST00000368173.3_Missense_Mutation_p.R388Q|KIRREL_ENST00000392272.2_Missense_Mutation_p.R269Q|KIRREL_ENST00000360089.4_Missense_Mutation_p.R208Q|KIRREL_ENST00000416935.2_Missense_Mutation_p.R272Q			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	372	Ig-like C2-type 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TACACCTGCCGGGCCATCGTG	0.657000													26	100					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921522	24921522	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:24921522G>A	ENST00000329468.2	+	1	982	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GGTGCAGATCGAAGGGGAGGA	0.617000													11	29					0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84800702	84800702	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:84800702C>T	ENST00000389394.3	+	12	2052	c.1915C>T	c.(1915-1917)Cag>Tag	p.Q639*	DNAH6_ENST00000237449.6_Nonsense_Mutation_p.Q639*|DNAH6_ENST00000398278.2_Nonsense_Mutation_p.Q639*	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	639	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TCTTAAACTTCAGGAACCTGG	0.378000													13	59					0	0	1	0	0
GAPDH	2597	broad.mit.edu	37	12	6644008	6644008	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:6644008G>A	ENST00000229239.5	+	2	676	c.10G>A	c.(10-12)Gtg>Atg	p.V4M	GAPDH_ENST00000396861.1_Missense_Mutation_p.V4M|GAPDH_ENST00000396856.1_5'UTR|GAPDH_ENST00000396859.1_Missense_Mutation_p.V4M	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	4	Interaction with WARS.				gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	CATGGGGAAGGTGAAGGTCGG	0.701000													8	60					0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30805971	30805971	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:30805971G>A	ENST00000256079.4	-	18	2342	c.2004C>T	c.(2002-2004)tcC>tcT	p.S668S	IPO8_ENST00000544829.1_Silent_p.S463S	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	668					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ACATTTGAGGGGAAATACTGT	0.353000													11	52					0	0	1	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41322333	41322333	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:41322333G>A	ENST00000357137.4	+	10	1502	c.1418G>A	c.(1417-1419)cGa>cAa	p.R473Q	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.R450Q	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	473					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						CTTGGTGTACGAATTGAGGAT	0.448000													38	201					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10090678	10090678	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:10090678C>T	ENST00000264828.3	-	36	2735	c.2650G>A	c.(2650-2652)Ggc>Agc	p.G884S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	884	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACAGGGGGGCCCTTTGGCCCA	0.607000													4	28					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580620	140580620	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140580620G>A	ENST00000354757.3	+	1	1273	c.1273G>A	c.(1273-1275)Gac>Aac	p.D425N	PCDHB11_ENST00000536699.1_Missense_Mutation_p.D60N	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		425	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCGTCACCGACTTGGGGAT	0.507000													31	91					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103403	53103403	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:53103403G>A	ENST00000408890.4	+	1	55	c.39G>A	c.(37-39)ggG>ggA	p.G13G		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	13										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CAGACCTCGGGAACTTCTGGA	0.701000													16	12					0	0	1	0	0
SPNS2	124976	broad.mit.edu	37	17	4436570	4436570	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:4436570G>A	ENST00000329078.3	+	8	1331	c.1121G>A	c.(1120-1122)gGa>gAa	p.G374E		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	374					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						TGCTTTACGGGATTTCTGGGC	0.667000													9	41					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361202	70361202	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:70361202G>A	ENST00000305107.6	-	1	424	c.378C>T	c.(376-378)ttC>ttT	p.F126F	UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Silent_p.F126F	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	126					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TATCCTTACAGAACTTTCTAA	0.353000													4	13					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103698491	103698491	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr13:103698491C>T	ENST00000245312.3	-	6	1635	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	347					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GTCTACTTTTCGTCAGGTTGA	0.373000													20	39					0	0	1	0	0
NMUR1	10316	broad.mit.edu	37	2	232390018	232390018	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:232390018G>A	ENST00000305141.4	-	3	1150	c.1017C>T	c.(1015-1017)gtC>gtT	p.V339V		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	339					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TGCCGGAGATGACGTGCACGT	0.642000													25	91					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38938553	38938553	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:38938553G>A	ENST00000302328.3	-	14	2384	c.2186C>T	c.(2185-2187)tCc>tTc	p.S729F	SCN11A_ENST00000444237.2_Missense_Mutation_p.S729F|SCN11A_ENST00000456224.3_Missense_Mutation_p.S729F|SCN11A_ENST00000450244.1_Missense_Mutation_p.S729F	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	729					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ACTCTTTTGGGAATTGAAGCT	0.498000													4	41					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158325322	158325322	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:158325322G>A	ENST00000444681.2	+	2	584	c.291G>A	c.(289-291)ggG>ggA	p.G97G	CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368167.3_Silent_p.G196G|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368160.3_Silent_p.G196G|CD1E_ENST00000368163.3_Silent_p.G196G|CD1E_ENST00000434258.1_Silent_p.G194G|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368161.3_Silent_p.G196G|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368165.3_Intron	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	196					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TTCTAGCGGGGCTCATGGAAG	0.478000													27	16					0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43922996	43922996	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:43922996G>A	ENST00000329196.5	+	1	741	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	242						integral to membrane	aspartic-type endopeptidase activity										AGCCCAGAAGGAAGATAATGA	0.612000													16	102					0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41712264	41712264	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:41712264C>T	ENST00000310054.4	+	9	1602	c.1386C>T	c.(1384-1386)tcC>tcT	p.S462S	CYP2S1_ENST00000542619.1_Silent_p.S187S	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	462					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						AAGCCTTCTCCCTGGAGAGCC	0.612000													23	139					0	0	1	0	0
ZNF439	90594	broad.mit.edu	37	19	11979244	11979244	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:11979244C>T	ENST00000304030.2	+	3	1560	c.1360C>T	c.(1360-1362)Cga>Tga	p.R454*	ZNF439_ENST00000455282.1_Nonsense_Mutation_p.R318*|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R454*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						CTCACAACTTCGAATCCATCG	0.428000													10	29					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90322045	90322045	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:90322045C>T	ENST00000469640.2	+	27	4509	c.4134C>T	c.(4132-4134)ttC>ttT	p.F1378F	DAPK1_ENST00000491893.1_Silent_p.F1287F|DAPK1_ENST00000358077.5_Silent_p.F1353F|DAPK1_ENST00000472284.1_Silent_p.F1353F|DAPK1_ENST00000408954.3_Silent_p.F1353F			P53355	DAPK1_HUMAN	death-associated protein kinase 1	1353	Death.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCAAGGATTTCCTCCCCAGCC	0.637000									Chronic Lymphocytic Leukemia, Familial Clustering of				42	45					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193185208	193185208	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:193185208C>T	ENST00000342695.4	-	10	1333	c.1011G>A	c.(1009-1011)caG>caA	p.Q337Q	ATP13A4_ENST00000295548.3_Silent_p.Q337Q|ATP13A4_ENST00000392443.3_Silent_p.Q337Q	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	337					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCGCTTCACTCTGTGTTTTCC	0.502000													22	66					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13414696	13414696	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:13414696G>A	ENST00000360228.5	-	16	1988	c.1989C>T	c.(1987-1989)atC>atT	p.I663I	CACNA1A_ENST00000573710.2_Silent_p.I664I	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	664					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CGCCCGTCAGGATCTGAAAGG	0.602000													38	117					0	0	1	0	0
SPP2	6694	broad.mit.edu	37	2	234967584	234967584	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:234967584C>T	ENST00000168148.3	+	3	403	c.315C>T	c.(313-315)ttC>ttT	p.F105F	SPP2_ENST00000373368.1_Silent_p.F105F	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	105					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		CATGTGCCTTCCAGAGGGACT	0.478000													11	31					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39425173	39425173	+	Missense_Mutation	SNP	A	A	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr13:39425173A>T	ENST00000280481.7	+	10	6886	c.6670A>T	c.(6670-6672)Agc>Tgc	p.S2224C		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2224					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CACTCCACAAAGCAACTCTCC	0.468000													15	61					0	0	1	0	0
IGLV3-25	28793	broad.mit.edu	37	22	23029622	23029622	+	RNA	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:23029622G>A	ENST00000390305.2	+	0	267																											AGGCCCTCAGGGATCCCTGAG	0.517000													34	53					0	0	1	0	0
KRT6C	286887	broad.mit.edu	37	12	52863006	52863006	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:52863006C>T	ENST00000252250.6	-	9	1582	c.1535G>A	c.(1534-1536)gGa>gAa	p.G512E		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	512	Tail.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GTAGCTGCTTCCTCCACCCAG	0.617000													15	37					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208432	140208432	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140208432C>T	ENST00000529310.1	+	1	870	c.756C>T	c.(754-756)ttC>ttT	p.F252F	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.F252F|PCDHA4_ENST00000530339.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAGAATATTCGAAAATGCAG	0.433000													18	70					0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90650906	90650906	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:90650906C>T	ENST00000282146.4	+	2	1227	c.786C>T	c.(784-786)ttC>ttT	p.F262F		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	262						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TTGCCAACTTCGTCTTCATCC	0.493000													24	79					0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090746	238090746	+	RNA	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:238090746C>T	ENST00000450451.1	+	0	2252					NR_027247.2																						ACCACCTCGGCCCAGCGGGAG	0.617000													10	20					0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64748646	64748646	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:64748646C>T	ENST00000536360.1	-	5	1544	c.731G>A	c.(730-732)aGa>aAa	p.R244K				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	244					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GCTCACTGATCTCTTCTGTCT	0.428000													24	85					0	0	1	0	0
AP3B1	8546	broad.mit.edu	37	5	77335072	77335072	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:77335072C>T	ENST00000255194.6	-	23	2779	c.2604G>A	c.(2602-2604)acG>acA	p.T868T	AP3B1_ENST00000519295.1_Silent_p.T819T|AP3B1_ENST00000523204.1_5'UTR	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	868					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CGTGAGTTTTCGTTGGTACAA	0.363000									Hermansky-Pudlak syndrome				19	56					0	0	1	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58021583	58021583	+	Missense_Mutation	SNP	C	C	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:58021583C>A	ENST00000341156.4	-	10	1786	c.1202G>T	c.(1201-1203)aGc>aTc	p.S401I	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.S346I	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	401					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGGCTCCACGCTCAGCAGCTG	0.711000													3	11					1	1	1	1	0
NRP1	8829	broad.mit.edu	37	10	33502473	33502473	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:33502473G>A	ENST00000265371.4	-	10	1980	c.1455C>T	c.(1453-1455)ctC>ctT	p.L485L	NRP1_ENST00000466932.1_5'UTR|NRP1_ENST00000374823.5_Silent_p.L485L|NRP1_ENST00000374816.3_Silent_p.L485L|NRP1_ENST00000374821.5_Silent_p.L485L|NRP1_ENST00000374822.4_Silent_p.L485L|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000395995.1_Silent_p.L485L|NRP1_ENST00000374867.2_Silent_p.L485L			O14786	NRP1_HUMAN	neuropilin 1	485	F5/8 type C 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GGTCTATTTGGAGCCACTCAT	0.537000													32	80					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003792	122003792	+	Silent	SNP	C	C	T	rs142305357		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:122003792C>T	ENST00000498619.1	+	7	3459	c.3021C>T	c.(3019-3021)tcC>tcT	p.S1007S	CASR_ENST00000296154.5_Silent_p.S997S|CASR_ENST00000490131.1_Silent_p.S997S	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	997					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.S997S(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ACCAGAACTCCCTGGAGGCCC	0.567000													13	47					0	0	1	0	0
TMEM89	440955	broad.mit.edu	37	3	48659055	48659055	+	Silent	SNP	C	C	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:48659055C>A	ENST00000330862.3	-	1	233	c.135G>T	c.(133-135)gtG>gtT	p.V45V		NM_001008269.1	NP_001008270.1	A2RUT3	TMM89_HUMAN	transmembrane protein 89	45						integral to membrane				breast(1)|lung(1)|stomach(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TACAGCCCTCCACACTCTTTG	0.657000													13	47					0.00244969	0.00245554	1	1	0
NPSR1	387129	broad.mit.edu	37	7	34698133	34698133	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:34698133G>A	ENST00000360581.1	+	1	237	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	NPSR1_ENST00000381542.1_Missense_Mutation_p.E37K|NPSR1_ENST00000465305.1_Missense_Mutation_p.E37K|AC005493.1_ENST00000399077.1_Intron|NPSR1_ENST00000531252.1_Missense_Mutation_p.E37K|NPSR1_ENST00000381553.3_Missense_Mutation_p.E37K|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381539.3_Missense_Mutation_p.E37K|NPSR1_ENST00000359791.1_Missense_Mutation_p.E37K	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	37						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TGAAGTGGTGGAAGGAAAGGA	0.483000													35	53					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21932218	21932218	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:21932218C>T	ENST00000328843.6	+	78	12735	c.12704C>T	c.(12703-12705)aCt>aTt	p.T4235I	DNAH11_ENST00000409508.3_Missense_Mutation_p.T4228I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4235					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTCTTCAGAACTTTGCTGGAG	0.473000									Kartagener syndrome				24	38					0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33739544	33739544	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr13:33739544G>A	ENST00000336934.5	-	3	369	c.253C>T	c.(253-255)Ccc>Tcc	p.P85S	STARD13_ENST00000255486.4_Missense_Mutation_p.P77S|STARD13_ENST00000399365.3_5'UTR|STARD13_ENST00000487412.1_5'UTR	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	85	SAM.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		ATGTTGATGGGAAATTGTGAA	0.363000													9	35					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834386	101834386	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:101834386G>A	ENST00000506729.1	-	1	334	c.163C>T	c.(163-165)Cca>Tca	p.P55S	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.P55S|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.P55S|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.P55S|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.P55S			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	55						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AAGGCCTCTGGAAGTAGTCTC	0.572000													58	227					0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159784043	159784043	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:159784043G>A	ENST00000321935.6	+	9	1215	c.1129G>A	c.(1129-1131)Gtc>Atc	p.V377I	FCRL6_ENST00000392235.3_Missense_Mutation_p.V275I|FCRL6_ENST00000368106.3_Missense_Mutation_p.V370I|FCRL6_ENST00000339348.5_Missense_Mutation_p.V370I			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	370						integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					TGAAGGTGTTGTCTACTCTGT	0.458000													15	106					0	0	1	0	0
CHSY1	22856	broad.mit.edu	37	15	101718472	101718472	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:101718472G>A	ENST00000254190.3	-	3	2005	c.1530C>T	c.(1528-1530)tcC>tcT	p.S510S	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	510					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCTTCTTCAGGGAGTTTGAGA	0.463000													19	56					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1260795	1260795	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:1260795C>T	ENST00000348261.5	+	21	4295	c.4047C>T	c.(4045-4047)gcC>gcT	p.A1349A	CACNA1H_ENST00000565831.1_Silent_p.A1349A|CACNA1H_ENST00000358590.4_Silent_p.A1349A	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1349					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	AGGTGGTGGCCCTGGGGCTGC	0.692000													8	43					0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6933591	6933591	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:6933591G>A	ENST00000311268.3	+	2	1314	c.527G>A	c.(526-528)gGc>gAc	p.G176D	GPR162_ENST00000428545.2_Intron|GPR162_ENST00000382315.3_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	176						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						TCCAAGATCGGCCTCGGCTTT	0.582000													23	65					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153594422	153594422	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:153594422G>A	ENST00000422373.1	-	9	1647	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	FLNA_ENST00000360319.4_Missense_Mutation_p.R467C|FLNA_ENST00000369850.3_Missense_Mutation_p.R467C|FLNA_ENST00000344736.4_Missense_Mutation_p.R467C	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	467					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TAGGGGCTGCGAGGGATGGGC	0.687000													15	25					0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79355727	79355727	+	Splice_Site	SNP	A	A	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:79355727A>G	ENST00000350881.2	+	7	1176	c.987_splice	c.e7+1	p.E329_splice	THBS4_ENST00000511733.1_Splice_Site_p.E238_splice|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	329	EGF-like 2; calcium-binding (Potential).				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GATGTTGATGAGGTAAAAGTT	0.512000													37	95					0	0	1	0	0
ABCE1	6059	broad.mit.edu	37	4	146030294	146030294	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:146030294C>T	ENST00000296577.4	+	5	813	c.298C>T	c.(298-300)Cct>Tct	p.P100S	ABCE1_ENST00000502803.1_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	100	ABC transporter 1.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					GTTGCCTATCCCTCGTCCAGG	0.343000													18	79					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20896278	20896278	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:20896278C>T	ENST00000381552.1	+	13	2141	c.1773C>T	c.(1771-1773)atC>atT	p.I591I	SLCO1C1_ENST00000266509.2_Silent_p.I591I|SLCO1C1_ENST00000540354.1_Silent_p.I542I|SLCO1C1_ENST00000545604.1_Silent_p.I591I|SLCO1C1_ENST00000545102.1_Silent_p.I473I			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	591					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CCTTGGGTATCTACACATTAG	0.299000													21	106					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7269837	7269837	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:7269837G>A	ENST00000361972.4	-	10	1273	c.1183C>T	c.(1183-1185)Cct>Tct	p.P395S	SFMBT2_ENST00000397167.1_Missense_Mutation_p.P395S	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	395					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CAGAAGGGAGGGGCTTCCTGC	0.413000													16	74					0	0	1	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32609190	32609190	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:32609190G>A	ENST00000343139.5	+	2	288	c.186G>A	c.(184-186)ctG>ctA	p.L62L	HLA-DQA1_ENST00000374949.2_Silent_p.L62L|HLA-DQA1_ENST00000395363.1_Silent_p.L62L	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	62	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						ACGTGGACCTGGAGAGGAAGG	0.517000													31	58					0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26515291	26515291	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:26515291G>A	ENST00000531191.1	+	19	1952	c.945G>A	c.(943-945)atG>atA	p.M315I	CNKSR1_ENST00000361530.6_Missense_Mutation_p.M573I|CNKSR1_ENST00000374253.5_Missense_Mutation_p.M580I			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	580	Pro-rich.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAAGGAATGGTACGGGGGC	0.657000													17	83					0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159519586	159519586	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:159519586C>T	ENST00000389757.3	+	14	2514	c.2389C>T	c.(2389-2391)Ccg>Tcg	p.P797S	PKP4_ENST00000495123.1_3'UTR|AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Missense_Mutation_p.P797S	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	797					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						AAAGAGGACTCCGCAAGAAGA	0.378000										HNSCC(62;0.18)			10	24					0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71007302	71007302	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:71007302C>T	ENST00000354624.5	+	9	1351	c.1218C>T	c.(1216-1218)ctC>ctT	p.L406L	HKDC1_ENST00000395086.2_Silent_p.L406L|HKDC1_ENST00000488706.1_3'UTR	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	406					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TGGAACGGCTCCGGACCACAG	0.612000													15	49					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149528223	149528223	+	RNA	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:149528223G>A	ENST00000378016.2	+	0	15142							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTCCCCACAGAGGAGCAGTC	0.622000													18	24					0	0	1	0	0
ARFIP1	27236	broad.mit.edu	37	4	153809310	153809310	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:153809310G>A	ENST00000451320.2	+	8	981	c.817G>A	c.(817-819)Gat>Aat	p.D273N	ARFIP1_ENST00000429148.2_Missense_Mutation_p.D93N|ARFIP1_ENST00000353617.2_Missense_Mutation_p.D273N|ARFIP1_ENST00000405727.2_Missense_Mutation_p.D241N|ARFIP1_ENST00000356064.3_Missense_Mutation_p.D241N			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	273	AH.				intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					ATATCGCACTGATTTGGAAGA	0.383000													8	49					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105798285	105798285	+	Splice_Site	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:105798285C>T	ENST00000353479.5	-	45	3239	c.2947_splice	c.e45-1	p.G983_splice	COL17A1_ENST00000369733.3_Splice_Site_p.G938_splice	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	983	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTGATGATCCCCCTGCAGCAA	0.612000													25	116					0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72961922	72961922	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:72961922C>T	ENST00000553530.1	+	13	1124	c.917C>T	c.(916-918)tCc>tTc	p.S306F	RGS6_ENST00000553525.1_Missense_Mutation_p.S306F|RGS6_ENST00000434263.2_Missense_Mutation_p.S237F|RGS6_ENST00000554782.1_Missense_Mutation_p.S167F|RGS6_ENST00000355512.6_Missense_Mutation_p.S306F|RGS6_ENST00000402788.2_Missense_Mutation_p.S306F|RGS6_ENST00000555571.1_Missense_Mutation_p.S306F|RGS6_ENST00000404301.2_Missense_Mutation_p.S306F|RGS6_ENST00000343854.6_Intron|RGS6_ENST00000556437.1_Missense_Mutation_p.S306F|RGS6_ENST00000407322.4_Missense_Mutation_p.S306F|RGS6_ENST00000406236.4_Missense_Mutation_p.S306F	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	306	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		GCTGAGCCATCCAACCCTTGG	0.433000													16	78					0	0	1	0	0
OR51I1	390063	broad.mit.edu	37	11	5462079	5462079	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:5462079C>T	ENST00000380211.1	-	1	665	c.666G>A	c.(664-666)ttG>ttA	p.L222L	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTCAGGATCAATGCGTAGG	0.468000													5	28					0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65509424	65509424	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:65509424C>T	ENST00000310193.3	-	6	1469	c.1296G>A	c.(1294-1296)ggG>ggA	p.G432G	CYP7B1_ENST00000523954.1_Intron	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	432					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TCAGCTTTTTCCCTCTTTTGA	0.333000													13	25					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175189508	175189508	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:175189508C>T	ENST00000454872.1	+	9	1743	c.1615C>T	c.(1615-1617)Cct>Tct	p.P539S	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	539					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TAGTCTGTATCCTGTAGCATC	0.368000													9	15					0	0	1	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189731	58189731	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:58189731C>T	ENST00000318203.5	+	5	1457	c.760C>T	c.(760-762)Cag>Tag	p.Q254*		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	254					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGCTAGATCTCAGGAAGGGTC	0.507000													15	41					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807593	143807593	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:143807593G>A	ENST00000408979.2	+	1	987	c.918G>A	c.(916-918)agG>agA	p.R306R		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CACTCCAGAGGAAGAGGTCCA	0.433000													21	184					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101891702	101891702	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:101891702C>T	ENST00000360264.3	+	24	3951	c.3931C>T	c.(3931-3933)Cgc>Tgc	p.R1311C	CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.R1300C|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.R1142C|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.R1198C|CUX1_ENST00000549414.2_Missense_Mutation_p.R1278C|CUX1_ENST00000550008.2_Missense_Mutation_p.R1244C|CUX1_ENST00000547394.2_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1300					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GTCTCGGATCCGCAGAGAACT	0.687000													9	12					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36748261	36748261	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:36748261C>T	ENST00000354618.5	+	3	321	c.97C>T	c.(97-99)Cga>Tga	p.R33*	THRAP3_ENST00000469141.2_Nonsense_Mutation_p.R33*	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	33	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTCTCGGTCCCGAAGCCGATC	0.458000			T	USP6	aneurysmal bone cysts								20	53					0	0	1	0	0
FAM168B	130074	broad.mit.edu	37	2	131840213	131840213	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:131840213G>A	ENST00000409185.1	-	2	114	c.7C>T	c.(7-9)Cct>Tct	p.P3S	FAM168B_ENST00000389915.3_Missense_Mutation_p.P3S	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	3										endometrium(3)|lung(2)	5						CTATAAACAGGATTCATGATT	0.358000													5	11					0	0	1	0	0
WRAP53	55135	broad.mit.edu	37	17	7606599	7606599	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:7606599G>A	ENST00000316024.5	+	10	3790	c.1442G>A	c.(1441-1443)gGt>gAt	p.G481D	WRAP53_ENST00000431639.2_Missense_Mutation_p.G481D|WRAP53_ENST00000534050.1_Missense_Mutation_p.G448D|WRAP53_ENST00000396463.2_Missense_Mutation_p.G481D|WRAP53_ENST00000457584.2_Missense_Mutation_p.G481D			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	481					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						ACTGCCTCCGGTCAGCGTGTG	0.622000													18	51					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101168390	101168390	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:101168390C>T	ENST00000259455.2	-	8	1729	c.1270G>A	c.(1270-1272)Ggg>Agg	p.G424R		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	424				G -> E (in Ref. 5; AAD30389).	negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TTAATGGTCCCCATTCTCTCC	0.333000													11	50					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140285410	140285410	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:140285410G>A	ENST00000275884.6	-	4	1641	c.1224C>T	c.(1222-1224)tcC>tcT	p.S408S	DENND2A_ENST00000492720.1_Silent_p.S408S|DENND2A_ENST00000537639.1_Silent_p.S408S|DENND2A_ENST00000496613.1_Silent_p.S408S			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	408										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TGTCAGGGATGGAAGAGGTGG	0.547000													27	177					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27101404	27101404	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:27101404C>T	ENST00000324856.7	+	18	5057	c.4686C>T	c.(4684-4686)ccC>ccT	p.P1562P	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Silent_p.P1179P	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1562					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCCTGTGCCCCCCATGACAA	0.617000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								19	36					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41410561	41410561	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:41410561G>A	ENST00000551295.2	+	19	2379	c.2262G>A	c.(2260-2262)tgG>tgA	p.W754*	CNTN1_ENST00000347616.1_Nonsense_Mutation_p.W754*|CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000348761.2_Nonsense_Mutation_p.W743*	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	754	Fibronectin type-III 2.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAGAAGAATGGAAAAAAGTCA	0.368000													10	52					0	0	1	0	0
MORC2	22880	broad.mit.edu	37	22	31328554	31328554	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:31328554C>T	ENST00000215862.4	-	24	3902	c.2539G>A	c.(2539-2541)Gac>Aac	p.D847N	MORC2_ENST00000397641.2_Missense_Mutation_p.D909N	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	909							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						ACAAGCAGGTCGATGGTCTCG	0.582000													8	72					0	0	1	0	0
FYTTD1	84248	broad.mit.edu	37	3	197495333	197495333	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:197495333C>T	ENST00000241502.3	+	3	481	c.259C>T	c.(259-261)Cgt>Tgt	p.R87C	FYTTD1_ENST00000428395.2_5'UTR|FYTTD1_ENST00000424384.2_Missense_Mutation_p.R20C|FYTTD1_ENST00000415708.2_Missense_Mutation_p.R61C	NM_032288.6	NP_115664.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	87			R -> H (in dbSNP:rs3205525).		mRNA export from nucleus	nuclear speck	mRNA binding|protein binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		TAGTCTGAATCGTAGAGGAAG	0.403000													18	47					0	0	1	0	0
EXOC7	23265	broad.mit.edu	37	17	74093955	74093955	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:74093955G>A	ENST00000607838.1	-	5	656	c.562C>T	c.(562-564)Ctg>Ttg	p.L188L	EXOC7_ENST00000332065.5_Silent_p.L188L|EXOC7_ENST00000335146.7_Silent_p.L188L|EXOC7_ENST00000411744.2_Silent_p.L188L|EXOC7_ENST00000467929.2_Silent_p.L147L|EXOC7_ENST00000405575.4_Silent_p.L188L|EXOC7_ENST00000589210.1_Silent_p.L188L	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	188					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			AGGTGCTCCAGGGTCACGTCC	0.602000													20	125					0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74450975	74450975	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:74450975C>T	ENST00000307439.5	-	6	783	c.489G>A	c.(487-489)agG>agA	p.R163R	RASSF6_ENST00000395777.2_Silent_p.R163R|RASSF6_ENST00000342081.3_Silent_p.R195R|RASSF6_ENST00000335049.5_Silent_p.R151R	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	195			S -> P (in dbSNP:rs12507775).		apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GAGGCTTCATCCTTTTTCTCA	0.413000													20	79					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531469	92531469	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:92531469G>A	ENST00000298047.6	+	9	5307	c.5290G>A	c.(5290-5292)Gat>Aat	p.D1764N	FAT3_ENST00000409404.2_Missense_Mutation_p.D1764N|FAT3_ENST00000525166.1_Missense_Mutation_p.D1614N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1764	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGATGAAAATGATAATGCCCC	0.433000										TCGA Ovarian(4;0.039)			13	35					0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194080729	194080729	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:194080729G>A	ENST00000347624.3	-	2	1129	c.1044C>T	c.(1042-1044)ctC>ctT	p.L348L	LRRC15_ENST00000428839.1_Silent_p.L354L|LRRC15_ENST00000439944.2_Silent_p.L354L	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	348						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CGTTGGTGTGGAGGGACAGCT	0.597000													10	35					0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056697	120056697	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:120056697C>T	ENST00000235547.6	+	4	696	c.557C>T	c.(556-558)gCc>gTc	p.A186V	HSD3B1_ENST00000528909.1_Missense_Mutation_p.A184V|HSD3B1_ENST00000369413.3_Missense_Mutation_p.A184V	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	184					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TACACTTGTGCCTTACGACCC	0.512000													20	83					0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7828363	7828363	+	Splice_Site	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:7828363G>A	ENST00000327325.5	+	2	248		c.e2+1		CLEC4M_ENST00000596707.1_Splice_Site|CLEC4M_ENST00000595496.1_Splice_Site|CLEC4M_ENST00000597522.1_Splice_Site|CLEC4M_ENST00000394122.2_Splice_Site|CLEC4M_ENST00000359059.5_Splice_Site|CLEC4M_ENST00000357361.2_Splice_Site|CLEC4M_ENST00000248228.4_Splice_Site|CLEC4M_ENST00000334806.5_Intron|CLEC4M_ENST00000596363.1_Intron	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M						cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AGCTCTACAGGTAGGCAAGAG	0.512000													18	45					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280503	152280503	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:152280503C>T	ENST00000368799.1	-	3	6894	c.6859G>A	c.(6859-6861)Gaa>Aaa	p.E2287K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2287	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCTGTCTTCGTGATGGGAC	0.552000									Ichthyosis				81	586					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24491904	24491904	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:24491904C>T	ENST00000264463.4	-	11	2164	c.1657G>A	c.(1657-1659)Gga>Aga	p.G553R	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	553	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTATTGAATCCATTTTTTCTG	0.358000										HNSCC(23;0.051)			5	12					0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31996603	31996603	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:31996603C>T	ENST00000435363.2	+	26	3448	c.3364C>T	c.(3364-3366)Cca>Tca	p.P1122S	C4B_ENST00000425700.2_Missense_Mutation_p.P1122S	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1122					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										GGACCTCTCTCCAGTGATACA	0.612000													23	68					0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212824	62212824	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:62212824C>T	ENST00000519846.1	+	3	910	c.438C>T	c.(436-438)gcC>gcT	p.A146A	CLVS1_ENST00000518592.1_Intron|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000325897.4_Silent_p.A146A			Q8IUQ0	CLVS1_HUMAN	clavesin 1	146	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.A146A(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGTTTGCAGCCAATTGGGATC	0.448000													16	41					0	0	1	0	0
EFNB3	1949	broad.mit.edu	37	17	7611328	7611328	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:7611328G>A	ENST00000226091.2	+	2	572	c.175G>A	c.(175-177)Gac>Aac	p.D59N		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	59					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				GGACCGGCTAGACCTGCTCTG	0.617000													25	82					0	0	1	0	0
CC2D2B	387707	broad.mit.edu	37	10	97779544	97779544	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:97779544C>T	ENST00000344386.3	+	8	907	c.743C>T	c.(742-744)cCa>cTa	p.P248L	ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|CC2D2B_ENST00000410012.2_Missense_Mutation_p.P248L|ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000371198.2_Intron	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	248										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		CAGTTGCTTCCAAAAAACGTT	0.323000													37	115					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17120113	17120113	+	Splice_Site	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:17120113C>T	ENST00000443236.1	-	6	676	c.645_splice	c.e6+1	p.L215_splice	CTD-2528A14.1_ENST00000595134.1_RNA|CPAMD8_ENST00000388925.4_Splice_Site_p.L168_splice	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	168						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGCCACTCACCAGGATGTAGG	0.552000													31	125					0	0	1	0	0
MAP10	54627	broad.mit.edu	37	1	232942095	232942095	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:232942095C>T	ENST00000418460.1	+	1	1453	c.1326C>T	c.(1324-1326)tgC>tgT	p.C442C		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		ATATATTTTGCCCTCCTCCTT	0.443000													193	154					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540733	55540733	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:55540733G>A	ENST00000220676.1	+	4	4439	c.4291G>A	c.(4291-4293)Gaa>Aaa	p.E1431K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1431					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.E1431K(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTTTCAGGATGAAAATGCATA	0.373000													4	49					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128496964	128496964	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:128496964G>A	ENST00000325888.8	+	45	7811	c.7550G>A	c.(7549-7551)gGa>gAa	p.G2517E	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.G2484E	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2517	Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGGCTCGAGGGAGGCACTACC	0.647000													8	54					0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767475	105767475	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:105767475G>A	ENST00000374798.3	+	5	632	c.562G>A	c.(562-564)Gat>Aat	p.D188N	CYLC2_ENST00000487798.1_Missense_Mutation_p.D188N	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	188	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				tgcaaagaaagataacaaaaa	0.368000													17	23					0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4388918	4388918	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:4388918G>A	ENST00000408920.2	-	1	698	c.608C>T	c.(607-609)tCc>tTc	p.S203F		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATTAGAATGGAAAACCCATA	0.383000													14	44					0	0	1	0	0
FAM212B	55924	broad.mit.edu	37	1	112270131	112270131	+	Missense_Mutation	SNP	G	G	A	rs145633487	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:112270131G>A	ENST00000357260.5	-	2	534	c.353C>T	c.(352-354)cCc>cTc	p.P118L	FAM212B_ENST00000444059.2_Missense_Mutation_p.P103L|FAM212B_ENST00000534365.1_Intron	NM_019099.4	NP_061972.1	Q9NTI7	CA183_HUMAN	family with sequence similarity 212, member B	118										cervix(1)|endometrium(1)	2						CCTGGGCAAGGGGGCTAAATC	0.597000													17	61					0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10249208	10249208	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:10249208G>A	ENST00000340748.4	-	34	4209	c.3974C>T	c.(3973-3975)cCt>cTt	p.P1325L	DNMT1_ENST00000359526.4_Missense_Mutation_p.P1341L|DNMT1_ENST00000540357.1_Missense_Mutation_p.P1325L			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1325	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CGGGAACAGAGGGAGCTTCTC	0.642000													12	57					0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6935885	6935885	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:6935885C>T	ENST00000311268.3	+	5	2070	c.1283C>T	c.(1282-1284)tCc>tTc	p.S428F	GPR162_ENST00000428545.2_Missense_Mutation_p.S144F|GPR162_ENST00000382315.3_Missense_Mutation_p.S124F	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	428						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GAACCAGGCTCCTTCCTGCAC	0.612000													36	114					0	0	1	0	0
ZNF287	57336	broad.mit.edu	37	17	16470905	16470905	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:16470905G>A	ENST00000395824.1	-	2	758	c.141C>T	c.(139-141)acC>acT	p.T47T	ZNF287_ENST00000395825.3_Silent_p.T47T			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	40	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TCTGTCGACAGGTCTCAGTGT	0.478000													18	81					0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88533578	88533578	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:88533578G>A	ENST00000399271.1	+	4	360	c.240G>A	c.(238-240)ggG>ggA	p.G80G	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Silent_p.G80G	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	80					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AGGGAGAAGGGAATGGCTCTA	0.468000													9	21					0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	237052585	237052585	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:237052585G>A	ENST00000366577.5	+	28	3350	c.2956G>A	c.(2956-2958)Ggc>Agc	p.G986S	MTR_ENST00000535889.1_Missense_Mutation_p.G935S	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	986	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GCAGCTCCGGGGCAAGTACCC	0.488000													16	126					0	0	1	0	0
SNORD114-26	767606	broad.mit.edu	37	14	101453438	101453438	+	RNA	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:101453438G>A	ENST00000363543.1	+	0	56					NR_003219.1																						ATACGTGTCTGGAACTCTGAG	0.383000													16	79					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	176566	176566	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:176566C>T	ENST00000538872.1	+	1	636	c.518C>T	c.(517-519)tCc>tTc	p.S173F	IQSEC3_ENST00000326261.4_Missense_Mutation_p.S173F			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	173					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AAATCCCCCTCCGCCCTCGGC	0.642000													6	50					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087897	9087897	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:9087897C>T	ENST00000397910.4	-	1	4121	c.3918G>A	c.(3916-3918)gaG>gaA	p.E1306E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1306	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGCTGTCATCTCAGGTGAAG	0.493000													17	64					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20940837	20940837	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:20940837G>A	ENST00000298925.5	+	8	953	c.800G>A	c.(799-801)gGa>gAa	p.G267E	NELL1_ENST00000357134.5_Missense_Mutation_p.G239E|NELL1_ENST00000532434.1_Missense_Mutation_p.G239E|NELL1_ENST00000325319.5_Missense_Mutation_p.G182E			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	239					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CTGGTGCAAGGAATAATGGAT	0.303000													13	64					0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14871551	14871551	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:14871551C>T	ENST00000284268.6	-	1	336	c.6G>A	c.(4-6)gtG>gtA	p.V2V		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	2					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CCGGGAATTTCACCATAGTCC	0.692000													9	29					0	0	1	0	0
TRBV28	28559	broad.mit.edu	37	7	142428785	142428785	+	RNA	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:142428785G>A	ENST00000390400.2	+	0	165																											TATGGACCATGAAAATATGTT	0.433000													35	40					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256633	140256633	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140256633G>A	ENST00000398631.2	+	1	1576	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTAGACCACGAGGAGCTGGA	0.692000													45	165					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	67862928	67862928	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:67862928C>T	ENST00000433211.1	-	14	2138	c.1964G>A	c.(1963-1965)gGg>gAg	p.G655E	CTNNA3_ENST00000373744.4_Missense_Mutation_p.G655E	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	655					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ATCAGTTTTCCCTTCGGTCTG	0.488000													11	40					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197391068	197391068	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:197391068G>A	ENST00000367397.1	+	2	1111	c.253G>A	c.(253-255)Ggc>Agc	p.G85S	CRB1_ENST00000538660.1_Missense_Mutation_p.G704S|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.G592S|CRB1_ENST00000544212.1_Missense_Mutation_p.G185S|CRB1_ENST00000535699.1_Missense_Mutation_p.G635S|CRB1_ENST00000367400.3_Missense_Mutation_p.G704S			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	704	EGF-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GCCCTATGAAGGCCCCAACTG	0.517000													35	54					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5424222	5424222	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:5424222C>T	ENST00000262467.5	-	14	4479	c.3906G>A	c.(3904-3906)ggG>ggA	p.G1302G	NLRP1_ENST00000572272.1_Silent_p.G1298G|NLRP1_ENST00000269280.4_Intron|NLRP1_ENST00000577119.1_Intron|NLRP1_ENST00000354411.3_Silent_p.G1268G|NLRP1_ENST00000345221.3_Intron	NM_001033053.2	NP_001028225.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1298					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TTTCCAGCATCCCTGAACCAG	0.532000													3	7					0	0	1	0	0
DHRS7B	25979	broad.mit.edu	37	17	21094340	21094340	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:21094340G>A	ENST00000395511.3	+	7	1172	c.852G>A	c.(850-852)aaG>aaA	p.K284K	DHRS7B_ENST00000579303.1_Silent_p.K269K|DHRS7B_ENST00000581463.1_Intron	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	284						integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						GGAAGAAGAAGAAAGATGTGA	0.517000													41	139					0	0	1	0	0
DCT	1638	broad.mit.edu	37	13	95118855	95118855	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr13:95118855G>A	ENST00000377028.5	-	3	1066	c.653C>T	c.(652-654)aCc>aTc	p.T218I	DCT_ENST00000490854.1_5'UTR|DCT_ENST00000446125.1_Missense_Mutation_p.T218I	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	218					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		CCGGTGCCAGGTAACAAATGC	0.373000													9	37					0	0	1	0	0
CD7	924	broad.mit.edu	37	17	80274706	80274706	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:80274706G>A	ENST00000584284.1	-	2	315	c.234C>T	c.(232-234)ccC>ccT	p.P78P	CD7_ENST00000312648.3_Silent_p.P78P|CD7_ENST00000578509.1_5'UTR|CD7_ENST00000583376.1_5'UTR			P09564	CD7_HUMAN	CD7 molecule	78	Ig-like.				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			TGTCCGTAGTGGGCACCACCC	0.632000													24	117					0	0	1	0	0
GYG2	8908	broad.mit.edu	37	X	2799122	2799122	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:2799122C>T	ENST00000381163.3	+	12	1656	c.1374C>T	c.(1372-1374)atC>atT	p.I458I	GYG2_ENST00000398806.3_Silent_p.I427I|GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000542787.1_Silent_p.I387I|GYG2_ENST00000338623.5_Silent_p.I422I	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	458					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTTCCCAGATCTCCATCGAAG	0.537000													5	9					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137707455	137707455	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:137707455C>T	ENST00000371817.3	+	51	4462	c.4048C>T	c.(4048-4050)Ccc>Tcc	p.P1350S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1350	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCCTGGCCCCCCCGGAGAGCC	0.622000													12	18					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	73000569	73000569	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:73000569C>T	ENST00000322038.5	+	2	3656	c.3072C>T	c.(3070-3072)atC>atT	p.I1024I	TSHZ1_ENST00000580243.1_Silent_p.I1069I	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	1069						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACCACCTGATCTATGTGACTG	0.537000													15	104					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195516761	195516761	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:195516761G>A	ENST00000463781.3	-	2	2149	c.1690C>T	c.(1690-1692)Cag>Tag	p.Q564*	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Nonsense_Mutation_p.Q564*	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	569					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.Q564K(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CATTGTGTCTGGGCGCCTGCC	0.552000													68	239					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179398708	179398708	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:179398708G>A	ENST00000367618.3	+	13	1673	c.1286G>A	c.(1285-1287)gGc>gAc	p.G429D	AXDND1_ENST00000457238.2_Missense_Mutation_p.G429D|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	429										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AATGAAAAAGGCTGGAATAAA	0.323000													15	41					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40113090	40113090	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:40113090G>A	ENST00000373233.3	-	15	2336	c.2159C>T	c.(2158-2160)tCc>tTc	p.S720F	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	720					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGTCAGGAAGGAAAAGTTCTT	0.473000													69	125					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18029019	18029019	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:18029019C>T	ENST00000262608.8	+	16	3979	c.3979C>T	c.(3979-3981)Ccc>Tcc	p.P1327S	CECR2_ENST00000400573.4_Missense_Mutation_p.P1326S|CECR2_ENST00000400585.2_Missense_Mutation_p.P1184S	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1368					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GACGGGGCCTCCCTATACCCC	0.607000													42	76					0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077333	19077333	+	Missense_Mutation	SNP	A	A	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:19077333A>T	ENST00000329773.2	-	2	704	c.617T>A	c.(616-618)cTg>cAg	p.L206Q		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	206					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GATCCTGACCAGCAGGGCCAG	0.547000													7	36					0	0	1	0	0
MPP2	4355	broad.mit.edu	37	17	41960589	41960589	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:41960589G>A	ENST00000269095.4	-	4	589	c.285C>T	c.(283-285)ctC>ctT	p.L95L	MPP2_ENST00000520305.1_5'UTR|MPP2_ENST00000536246.1_Silent_p.L84L|MPP2_ENST00000523501.1_Silent_p.L84L|MPP2_ENST00000518766.1_Silent_p.L140L|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000461854.1_Silent_p.L119L|MPP2_ENST00000377184.3_Silent_p.L112L	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	119	L27 2.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		GGGGCTCCTGGAGGATGTGGG	0.662000													3	9					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115351994	115351994	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:115351994G>A	ENST00000369358.4	-	39	4871	c.4627C>T	c.(4627-4629)Ccc>Tcc	p.P1543S	NRAP_ENST00000359988.3_Missense_Mutation_p.P1535S|NRAP_ENST00000360478.3_Missense_Mutation_p.P1500S|NRAP_ENST00000369360.3_Missense_Mutation_p.P1508S			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1535						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GTCTGGAAGGGGATGGCATCC	0.517000													8	58					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10930700	10930700	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:10930700C>T	ENST00000314646.5	+	16	1880	c.1716C>T	c.(1714-1716)atC>atT	p.I572I	DNM2_ENST00000585892.1_Silent_p.I572I|DNM2_ENST00000408974.4_Silent_p.I568I|DNM2_ENST00000389253.4_Silent_p.I572I|DNM2_ENST00000355667.6_Silent_p.I572I|DNM2_ENST00000359692.6_Silent_p.I568I			P50570	DYN2_HUMAN	dynamin 2	572	PH.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			ACCTCAAGATCCGTGATGTGG	0.577000			"""F, N, Splice, Mis, O"""		ETP ALL								34	119					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55118632	55118632	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:55118632C>T	ENST00000414150.2	+	3	311	c.33C>T	c.(31-33)ttC>ttT	p.F11F	MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000395690.2_Silent_p.F11F|MROH7_ENST00000421030.2_Silent_p.F11F|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000339553.5_Silent_p.F11F					maestro heat-like repeat family member 7																		ACCTGGTCTTCCATGAAGACC	0.602000													17	62					0	0	1	0	0
CCNI2	645121	broad.mit.edu	37	5	132086664	132086664	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:132086664G>A	ENST00000378731.1	+	4	800	c.749G>A	c.(748-750)gGg>gAg	p.G250E	SEPT8_ENST00000378719.2_3'UTR|CCNI2_ENST00000468733.1_3'UTR	NM_001039780.2	NP_001034869.1	Q6ZMN8	CCNI2_HUMAN	cyclin I family, member 2	250					regulation of cyclin-dependent protein kinase activity		protein kinase binding			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCTATATTGGGACGCCGCTG	0.478000													20	99					0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152384585	152384585	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:152384585G>A	ENST00000271835.3	-	2	187	c.125C>T	c.(124-126)gCc>gTc	p.A42V	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	42					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AATCACATCGGCAAACTCTTG	0.572000													24	187					0	0	1	0	0
TTLL10	254173	broad.mit.edu	37	1	1115512	1115512	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:1115512G>A	ENST00000379290.1	+	6	471	c.298G>A	c.(298-300)Gac>Aac	p.D100N	TTLL10_ENST00000379288.3_Missense_Mutation_p.D27N|TTLL10_ENST00000379289.1_Missense_Mutation_p.D100N			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	100					protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGTGGGCCGGACCTGGAGGG	0.692000													7	21					0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179226415	179226415	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:179226415C>T	ENST00000190611.4	+	13	1536	c.1160C>T	c.(1159-1161)tCt>tTt	p.S387F	OSBPL6_ENST00000315022.2_Missense_Mutation_p.S391F|OSBPL6_ENST00000357080.4_Missense_Mutation_p.S356F|OSBPL6_ENST00000409631.1_Missense_Mutation_p.S387F|OSBPL6_ENST00000409045.3_Missense_Mutation_p.S356F|OSBPL6_ENST00000392505.2_Missense_Mutation_p.S412F|OSBPL6_ENST00000359685.3_Missense_Mutation_p.S387F	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	387					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CCAGTGCATTCTCTTTTGAAG	0.413000													23	58					0	0	1	0	0
CC2D2B	387707	broad.mit.edu	37	10	97772324	97772324	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:97772324G>A	ENST00000344386.3	+	4	320	c.156G>A	c.(154-156)caG>caA	p.Q52Q	ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|CC2D2B_ENST00000410012.2_Silent_p.Q52Q|ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000371198.2_Intron	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	52										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		AGAGAGCACAGATTTTTAAAA	0.313000													13	51					0	0	1	0	0
MAOB	4129	broad.mit.edu	37	X	43634451	43634451	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:43634451G>A	ENST00000378069.4	-	12	1353	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F	MAOB_ENST00000536181.1_Silent_p.F386F|MAOB_ENST00000538942.1_Intron	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	402					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	TCCCAGGGGGGAAATAAGTTG	0.453000													4	5					0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440185	124440185	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:124440185C>T	ENST00000284287.3	+	1	293	c.221C>T	c.(220-222)aCc>aTc	p.T74I		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T74I(1)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		CAGCTGCACACCCCCATGTAC	0.498000													20	86					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95720249	95720249	+	RNA	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:95720249G>A	ENST00000480546.1	-	0	1048					NR_002319.2																						AGCCTTTTGGGGGGCTGGTCT	0.512000													9	38					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21120176	21120176	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:21120176C>T	ENST00000377122.4	-	16	2016	c.1620G>A	c.(1618-1620)atG>atA	p.M540I	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	540					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTGGGATATCCATGCTCACTT	0.368000													16	36					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061664	9061664	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:9061664G>A	ENST00000397910.4	-	3	25985	c.25782C>T	c.(25780-25782)ctC>ctT	p.L8594L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8596	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCCAAGGGTGAGAAGTGCAG	0.488000													18	58					0	0	1	0	0
DPP9	91039	broad.mit.edu	37	19	4682740	4682740	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:4682740G>A	ENST00000262960.9	-	20	2719	c.2442C>T	c.(2440-2442)tcC>tcT	p.S814S	AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000594671.1_Silent_p.S785S|DPP9_ENST00000598800.1_Silent_p.S785S	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	785					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GCAGGGCCACGGAACCCGCCT	0.657000													4	12					0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133175089	133175089	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:133175089C>T	ENST00000329321.3	+	1	943	c.474C>T	c.(472-474)ttC>ttT	p.F158F		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	158						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGATTGGCTTCGTCTGGGTCA	0.602000													13	32					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47808954	47808954	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:47808954G>A	ENST00000273857.4	-	2	173	c.174C>T	c.(172-174)ctC>ctT	p.L58L	CORIN_ENST00000504584.1_Silent_p.L58L|CORIN_ENST00000502252.1_Silent_p.L58L|CORIN_ENST00000505909.1_Silent_p.L58L	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	58					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GCAAGAGAACGAGAGCACAGA	0.443000													4	21					0	0	1	0	0
GYPA	2993	broad.mit.edu	37	4	145038046	145038046	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:145038046C>T	ENST00000360771.4	-	5	433	c.318G>A	c.(316-318)acG>acA	p.T106T	GYPA_ENST00000512064.1_Silent_p.T93T|GYPA_ENST00000503627.1_Silent_p.T61T|GYPA_ENST00000512789.1_Silent_p.T41T|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000324022.10_Silent_p.T73T|GYPA_ENST00000504786.1_Silent_p.T74T|GYPA_ENST00000535709.1_Silent_p.T80T|GYPB_ENST00000283126.7_Intron	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	106					interspecies interaction between organisms	membrane fraction	receptor activity	p.T106T(1)		central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					TTAAGAGGATCGTTCCAATAA	0.358000													17	103					0	0	1	0	0
RAB11B	9230	broad.mit.edu	37	19	8467411	8467411	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:8467411C>T	ENST00000328024.6	+	4	691	c.473C>T	c.(472-474)tCc>tTc	p.S158F	RAB11B_ENST00000601897.1_Missense_Mutation_p.S39F|RAB11B_ENST00000594216.1_Missense_Mutation_p.S158F	NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	158					cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			large_intestine(2)|lung(1)|ovary(1)	4						GCCTTGGATTCCACTAACGTA	0.557000													17	52					0	0	1	0	0
ATF2	1386	broad.mit.edu	37	2	175986250	175986250	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:175986250G>A	ENST00000264110.2	-	5	419	c.121C>T	c.(121-123)Cat>Tat	p.H41Y	ATF2_ENST00000538946.1_Missense_Mutation_p.H23Y|ATF2_ENST00000487334.2_Missense_Mutation_p.H23Y|ATF2_ENST00000409833.1_Missense_Mutation_p.H41Y|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000345739.5_Intron|ATF2_ENST00000426833.3_Missense_Mutation_p.H23Y|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000392544.1_Missense_Mutation_p.H41Y|ATF2_ENST00000409635.1_Intron|ATF2_ENST00000409437.1_Missense_Mutation_p.H23Y	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	41					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			ACAGCCAAATGATCCTCGTTG	0.313000													10	36					0	0	1	0	0
FSCN2	25794	broad.mit.edu	37	17	79503604	79503604	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:79503604G>A	ENST00000334850.7	+	4	1134	c.1134G>A	c.(1132-1134)ggG>ggA	p.G378G	FSCN2_ENST00000417245.2_Intron			O14926	FSCN2_HUMAN	fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)	368					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CCTGGACAGGGAAGGTGGCGG	0.692000													9	23					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170146	113170146	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:113170146G>A	ENST00000401783.2	-	38	8070	c.7734C>T	c.(7732-7734)atC>atT	p.I2578I	SVEP1_ENST00000297826.5_Silent_p.I504I|SVEP1_ENST00000374469.1_Silent_p.I2555I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2578	Sushi 20.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AACTGTAGATGATTATGGCAC	0.473000													22	34					0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129868614	129868614	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:129868614G>A	ENST00000254667.3	+	14	1472	c.1193G>A	c.(1192-1194)gGg>gAg	p.G398E	PTPRE_ENST00000419012.2_Missense_Mutation_p.G398E|PTPRE_ENST00000306042.5_Missense_Mutation_p.G340E	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	398					negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				TACCTCTACGGGGACACAGAG	0.592000													15	46					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108220569	108220569	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:108220569C>T	ENST00000273353.3	-	4	445	c.389G>A	c.(388-390)tGg>tAg	p.W130*		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	130	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ATAGATCATCCACTGGCCATA	0.458000													15	36					0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63884315	63884315	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:63884315C>T	ENST00000246841.3	+	2	1619	c.576C>T	c.(574-576)atC>atT	p.I192I	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	164					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						TGAGCAGCATCCCCTCGGGGC	0.632000													8	28					0	0	1	0	0
UTP6	55813	broad.mit.edu	37	17	30226677	30226677	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:30226677G>A	ENST00000261708.4	-	2	302	c.165C>T	c.(163-165)atC>atT	p.I55I	UTP6_ENST00000490218.2_5'UTR	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	55					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				GAACATAATTGATAAAGTCTT	0.363000													9	17					0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74326911	74326911	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:74326911C>T	ENST00000435786.2	+	7	1819	c.1750C>T	c.(1750-1752)Ccc>Tcc	p.P584S	PML_ENST00000268058.3_Intron|PML_ENST00000268059.6_Intron|PML_ENST00000569477.1_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000354026.6_Intron|PML_ENST00000436891.3_Intron	NM_033240.2	NP_150243.2	P29590	PML_HUMAN	promyelocytic leukemia	583					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TCCTGCCTCCCCCCATTTCAG	0.587000			T	"""RARA, PAX5"""	"""APL, ALL"""								19	60					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48761025	48761025	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:48761025G>A	ENST00000285238.8	+	27	3942	c.3862G>A	c.(3862-3864)Gag>Aag	p.E1288K		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1288					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCCACGTGGGGAGGTGGAGTT	0.657000													12	99					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185215	127185215	+	Missense_Mutation	SNP	T	T	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:127185215T>C	ENST00000371124.3	-	1	1167	c.971A>G	c.(970-972)aAa>aGa	p.K324R		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	324						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GGGAGTACCTTTGGAAGCCAG	0.498000													31	22					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164764781	164764781	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:164764781G>A	ENST00000264382.3	-	16	1797	c.1735C>T	c.(1735-1737)Cct>Tct	p.P579S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	579	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CTCTTATTAGGAAAAACTTTT	0.303000										HNSCC(35;0.089)			7	19					0	0	1	0	0
CCR10	2826	broad.mit.edu	37	17	40832611	40832611	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:40832611C>T	ENST00000332438.4	-	2	68	c.49G>A	c.(49-51)Gat>Aat	p.D17N	CTD-3193K9.4_ENST00000593139.1_RNA|CCR10_ENST00000591765.1_5'UTR	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	17						integral to plasma membrane				lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TCCTCTTCATCCCCAGAGTAA	0.592000													15	56					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53044607	53044607	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:53044607C>T	ENST00000276480.7	-	22	3260	c.2577G>A	c.(2575-2577)tgG>tgA	p.W859*		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	859						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGTTCAGTTTCCAGGAGAGGG	0.493000													16	57					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107720054	107720054	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:107720054C>T	ENST00000388781.3	-	15	1962	c.1879G>A	c.(1879-1881)Gaa>Aaa	p.E627K	LAMB4_ENST00000205386.4_Missense_Mutation_p.E627K|LAMB4_ENST00000388780.3_Missense_Mutation_p.E627K|LAMB4_ENST00000414450.2_Missense_Mutation_p.E627K	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	627	Laminin IV type B.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ACCTGGGTTTCATAGTGAATG	0.453000													30	52					0	0	1	0	0
HAP1	9001	broad.mit.edu	37	17	39890717	39890717	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:39890717C>T	ENST00000393939.2	-	1	179	c.170G>A	c.(169-171)gGa>gAa	p.G57E	JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Missense_Mutation_p.G57E|HAP1_ENST00000341193.5_Missense_Mutation_p.G57E|HAP1_ENST00000310778.5_Missense_Mutation_p.G57E			P54257	HAP1_HUMAN	huntingtin-associated protein 1	57					brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GAACTGGGATCCAGAGGTGGC	0.701000													9	40					0	0	1	0	0
SCYL2	55681	broad.mit.edu	37	12	100717410	100717410	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:100717410C>T	ENST00000360820.2	+	11	1940	c.1503C>T	c.(1501-1503)tcC>tcT	p.S501S		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	501					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						AAACATCTTCCCTTGCGGTAA	0.303000													10	38					0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25019811	25019811	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:25019811C>T	ENST00000400382.1	+	11	1703	c.948C>T	c.(946-948)atC>atT	p.I316I	GGT1_ENST00000400383.1_Silent_p.I316I|GGT1_ENST00000400380.1_Silent_p.I316I|GGT1_ENST00000406383.2_Silent_p.I316I|GGT1_ENST00000248923.4_Silent_p.I316I|GGT1_ENST00000466310.1_3'UTR			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	316					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	ACCACCGCATCGTAGAGGCTT	0.617000													10	60					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103059752	103059752	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:103059752G>A	ENST00000264260.2	+	8	1478	c.889G>A	c.(889-891)Gag>Aag	p.E297K	IL18RAP_ENST00000409369.1_Missense_Mutation_p.E155K	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	297	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TTCTGACCTAGAGTGGGAAGT	0.393000													17	44					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200960248	200960248	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:200960248G>A	ENST00000332129.2	-	18	2800	c.2484C>T	c.(2482-2484)ccC>ccT	p.P828P	KIF21B_ENST00000422435.2_Silent_p.P828P|KIF21B_ENST00000360529.5_Silent_p.P828P|KIF21B_ENST00000461742.2_Silent_p.P828P	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	828					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GCTCAGACATGGGCTTGGCCA	0.637000													11	74					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7059828	7059828	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:7059828C>T	ENST00000299481.4	+	2	357	c.11C>T	c.(10-12)tCa>tTa	p.S4L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	4	DAPIN.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATGGCAGATTCATCATCATCT	0.368000													25	66					0	0	1	0	0
BARX2	8538	broad.mit.edu	37	11	129306709	129306709	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:129306709C>T	ENST00000281437.4	+	2	347	c.251C>T	c.(250-252)tCc>tTc	p.S84F	BARX2_ENST00000526127.1_5'UTR	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	84										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		ACTGTCATCTCCCACCTGGTC	0.677000													30	77					0	0	1	0	0
MTF1	4520	broad.mit.edu	37	1	38288067	38288067	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:38288067C>T	ENST00000373036.4	-	9	1633	c.1493G>A	c.(1492-1494)gGa>gAa	p.G498E		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	498						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AACAGAAAGTCCTGGTACAAT	0.572000													11	27					0	0	1	0	0
CORO7	79585	broad.mit.edu	37	16	4412714	4412714	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:4412714G>A	ENST00000251166.4	-	15	1446	c.1301C>T	c.(1300-1302)tCg>tTg	p.S434L	CORO7_ENST00000423908.2_Missense_Mutation_p.S266L|CORO7_ENST00000537233.2_Missense_Mutation_p.S416L|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.S434L|CORO7_ENST00000574025.1_Missense_Mutation_p.S349L|CORO7_ENST00000539968.1_Missense_Mutation_p.S214L	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CGAGGTCAGCGAACTGGGAGG	0.667000													7	19					0	0	1	0	0
MIR1253	100302208	broad.mit.edu	37	17	2651398	2651398	+	RNA	SNP	G	G	A	rs139010443	by1000genomes	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:2651398G>A	ENST00000408273.1	-	0	78					NR_031654.1																						AATCCCAAAGGGGAGAAGATC	0.478000													3	23					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48655581	48655581	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:48655581C>T	ENST00000352832.5	+	9	2329	c.1957C>T	c.(1957-1959)Cct>Tct	p.P653S	CACNA1G_ENST00000510366.1_Missense_Mutation_p.P653S|CACNA1G_ENST00000515165.1_Missense_Mutation_p.P653S|CACNA1G_ENST00000514717.1_Missense_Mutation_p.P653S|CACNA1G_ENST00000503485.1_Missense_Mutation_p.P653S|CACNA1G_ENST00000514079.1_Missense_Mutation_p.P653S|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P653S|CACNA1G_ENST00000507896.1_Missense_Mutation_p.P653S|CACNA1G_ENST00000513689.2_Missense_Mutation_p.P653S|CACNA1G_ENST00000505165.1_Missense_Mutation_p.P653S|CACNA1G_ENST00000360761.4_Missense_Mutation_p.P653S|CACNA1G_ENST00000358244.5_Missense_Mutation_p.P653S|CACNA1G_ENST00000354983.4_Missense_Mutation_p.P653S|CACNA1G_ENST00000512389.1_Missense_Mutation_p.P653S|CACNA1G_ENST00000416767.4_Missense_Mutation_p.P653S|CACNA1G_ENST00000514181.1_Missense_Mutation_p.P653S|CACNA1G_ENST00000515765.1_Missense_Mutation_p.P653S|CACNA1G_ENST00000510115.1_Missense_Mutation_p.P653S|CACNA1G_ENST00000507609.1_Missense_Mutation_p.P653S|CACNA1G_ENST00000429973.2_Missense_Mutation_p.P653S|CACNA1G_ENST00000513964.1_Missense_Mutation_p.P653S|CACNA1G_ENST00000507510.2_Missense_Mutation_p.P653S|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P653S|CACNA1G_ENST00000442258.2_Missense_Mutation_p.P653S|CACNA1G_ENST00000515411.1_Missense_Mutation_p.P653S|CACNA1G_ENST00000359106.5_Missense_Mutation_p.P653S	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	653					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GATCTCCAGCCCTTGCTTGAA	0.622000													14	90					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133219489	133219489	+	Missense_Mutation	SNP	G	G	A	rs147500308		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:133219489G>A	ENST00000320574.5	-	36	4688	c.4645C>T	c.(4645-4647)Ccc>Tcc	p.P1549S	POLE_ENST00000535270.1_Missense_Mutation_p.P1522S	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1549					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GTGTGTTTGGGGGGTGGCAGG	0.612000								DNA polymerases (catalytic subunits)					18	67					0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48621014	48621014	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:48621014G>A	ENST00000263274.7	-	26	2883	c.2464C>T	c.(2464-2466)Cct>Tct	p.P822S	LIG1_ENST00000536218.1_Missense_Mutation_p.P754S|LIG1_ENST00000427526.2_Missense_Mutation_p.P791S	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	822					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CGCACGTAAGGGCGTGGGCTG	0.612000								Nucleotide excision repair (NER)					3	19					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231652	21231652	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:21231652C>T	ENST00000233242.1	-	26	8215	c.8088G>A	c.(8086-8088)ctG>ctA	p.L2696L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2696					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCTCCACCTTCAGATCCCTGA	0.438000													32	126					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176004541	176004541	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:176004541G>A	ENST00000510636.1	+	13	1610	c.1336G>A	c.(1336-1338)Gcg>Acg	p.A446T	CDHR2_ENST00000506348.1_Missense_Mutation_p.A446T|CDHR2_ENST00000261944.5_Missense_Mutation_p.A446T	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	446	Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GAGGCAGACGGCGATGGCGGT	0.692000													13	29					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281161	152281161	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:152281161G>A	ENST00000368799.1	-	3	6236	c.6201C>T	c.(6199-6201)ccC>ccT	p.P2067P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2067	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGCTGATGGGGCCCAGCTT	0.562000									Ichthyosis				92	621					0	0	1	0	0
ASB4	51666	broad.mit.edu	37	7	95167003	95167003	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:95167003C>T	ENST00000325885.5	+	5	1284	c.1213C>T	c.(1213-1215)Cct>Tct	p.P405S		NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	405	SOCS box.				intracellular signal transduction			p.P405S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TAGAGCAATTCCTTTGCTTTC	0.413000													28	73					0	0	1	0	0
E2F2	1870	broad.mit.edu	37	1	23848337	23848337	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:23848337G>A	ENST00000361729.2	-	3	996	c.570C>T	c.(568-570)atC>atT	p.I190I		NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	190					G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		ACACCCACTGGATGTTGTTCT	0.612000													19	43					0	0	1	0	0
SLC7A3	84889	broad.mit.edu	37	X	70147134	70147134	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:70147134G>A	ENST00000374299.3	-	8	1428	c.1284C>T	c.(1282-1284)ctC>ctT	p.L428L	SLC7A3_ENST00000298085.4_Silent_p.L428L			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	428					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGTCTCACCTGAGGATGAGAA	0.453000													9	9					0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242139641	242139641	+	Splice_Site	SNP	G	G	A	rs150724018		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:242139641G>A	ENST00000274979.8	+	6	819		c.e6+1		ANO7_ENST00000402430.3_Splice_Site	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7							cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						AGCTGCCACGGTAAGGCAGGG	0.607000													7	29					0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6898475	6898475	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:6898475G>A	ENST00000262227.3	+	17	5126	c.1915G>A	c.(1915-1917)Gga>Aga	p.G639R	ARHGAP28_ENST00000400091.2_Missense_Mutation_p.G691R|ARHGAP28_ENST00000419673.2_Intron|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.G514R|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.G532R|ARHGAP28_ENST00000383472.4_Intron|ARHGAP28_ENST00000531294.1_Intron|ARHGAP28_ENST00000314319.3_Intron			B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	0					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				cttcctaaatggaaaatgggt	0.418000													34	52					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13867922	13867922	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:13867922G>A	ENST00000265104.4	-	25	4118	c.4014C>T	c.(4012-4014)ttC>ttT	p.F1338F	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1338	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.F1338F(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AATCTTGGAGGAATACCTCCA	0.453000									Kartagener syndrome				30	112					0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205884054	205884054	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:205884054G>A	ENST00000367134.2	-	22	2743	c.2630C>T	c.(2629-2631)tCg>tTg	p.S877L	SLC26A9_ENST00000340781.4_Missense_Mutation_p.S877L|SLC26A9_ENST00000367135.3_3'UTR	NM_134325.2	NP_599152.2	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	0						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			ATCTGACACCGAGCCGTGTGG	0.527000													24	210					0	0	1	0	0
SLC7A3	84889	broad.mit.edu	37	X	70148084	70148084	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:70148084C>T	ENST00000374299.3	-	5	875	c.731G>A	c.(730-732)gGa>gAa	p.G244E	SLC7A3_ENST00000298085.4_Missense_Mutation_p.G244E			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	244					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGGCACAAATCCTCCAGAGCC	0.493000													5	8					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96795092	96795092	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:96795092G>A	ENST00000359933.4	-	13	2786	c.1893C>T	c.(1891-1893)ttC>ttT	p.F631F		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	631										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CTTTGGAATGGAACGTTAAAA	0.358000													5	43					0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81637125	81637125	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:81637125C>T	ENST00000558726.1	-	13	1638	c.1503G>A	c.(1501-1503)tgG>tgA	p.W501*	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Nonsense_Mutation_p.W500*			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	500						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CGTATGTCTCCCAGCACTGGT	0.498000													12	35					0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43585144	43585144	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:43585144G>A	ENST00000406487.1	-	2	417	c.319C>T	c.(319-321)Ctg>Ttg	p.L107L		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	107	Ig-like V-type.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TGGATCAGCAGGGATGCATTG	0.443000													72	221					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595093	179595093	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:179595093G>A	ENST00000589042.1	-	62	18258	c.18034C>T	c.(18034-18036)Cct>Tct	p.P6012S	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P4768S|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P5695S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5695	Ig-like 41.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAAAGTAAGGGGGTTCTGAG	0.358000													3	16					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11733242	11733242	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:11733242C>T	ENST00000381486.2	+	11	1986	c.1686C>T	c.(1684-1686)atC>atT	p.I562I	GREB1_ENST00000234142.5_Silent_p.I562I	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	562						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACTCCTGCATCGCCGTCACCG	0.642000													5	11					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55107247	55107247	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:55107247C>T	ENST00000251372.3	+	6	987	c.805C>T	c.(805-807)Cct>Tct	p.P269S	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	269	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.P269S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCTCCAGCTCCCTGGCCCACA	0.607000													36	95					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28660142	28660142	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:28660142C>T	ENST00000280904.6	-	10	1883	c.1440G>A	c.(1438-1440)atG>atA	p.M480I	DSC2_ENST00000251081.6_Missense_Mutation_p.M480I	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	480	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CATTTTCTTTCATGCGAACAG	0.418000													29	73					0	0	1	0	0
OR10H3	26532	broad.mit.edu	37	19	15852478	15852478	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:15852478C>T	ENST00000305892.1	+	1	276	c.276C>T	c.(274-276)tcC>tcT	p.S92S		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CCCATCGTTCCATCACCTTTG	0.498000													62	238					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30701198	30701198	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:30701198G>A	ENST00000256246.2	-	1	5410	c.5336C>T	c.(5335-5337)tCa>tTa	p.S1779L		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1779										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TACATAGTATGAATTCTTTTC	0.323000													9	19					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238285986	238285986	+	Splice_Site	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:238285986C>T	ENST00000295550.4	-	7	2951	c.2497_splice	c.e7-1	p.E833_splice	COL6A3_ENST00000409809.1_Splice_Site_p.E627_splice|COL6A3_ENST00000353578.4_Splice_Site_p.E627_splice|COL6A3_ENST00000392003.2_Splice_Site_p.E426_splice|COL6A3_ENST00000346358.4_Splice_Site_p.E633_splice|COL6A3_ENST00000347401.3_Splice_Site_p.E632_splice|COL6A3_ENST00000472056.1_Splice_Site_p.E226_splice|COL6A3_ENST00000392004.3_Splice_Site_p.E627_splice	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	833	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCGCTTGCTCTCTGCAATGA	0.478000													18	43					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65486366	65486366	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:65486366C>T	ENST00000519389.1	+	21	3670	c.3491C>T	c.(3490-3492)tCt>tTt	p.S1164F	HEPH_ENST00000441993.2_Missense_Mutation_p.S1112F|HEPH_ENST00000374727.3_Missense_Mutation_p.S1113F|HEPH_ENST00000336279.5_Missense_Mutation_p.S843F|HEPH_ENST00000343002.2_Missense_Mutation_p.S1110F|HEPH_ENST00000419594.1_Missense_Mutation_p.S921F			Q9BQS7	HEPH_HUMAN	hephaestin	1110					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ATGCTGGCCTCTGTTTTGGTT	0.488000													9	28					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70255216	70255216	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:70255216C>T	ENST00000342771.4	+	19	3335	c.3014C>T	c.(3013-3015)cCg>cTg	p.P1005L	AUTS2_ENST00000406775.2_Missense_Mutation_p.P981L	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1005										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GCCTCGGAGCCGCCGCCTCCC	0.672000													10	38					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10430053	10430053	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:10430053C>T	ENST00000245503.5	-	30	4434	c.4050G>A	c.(4048-4050)cgG>cgA	p.R1350R	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.R1350R|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1350					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CATACTGTTCCCGCAGCAGGT	0.557000													21	90					0	0	1	0	0
KRT32	3882	broad.mit.edu	37	17	39620587	39620587	+	Missense_Mutation	SNP	C	C	T	rs141728288		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:39620587C>T	ENST00000225899.3	-	4	920	c.817G>A	c.(817-819)Gag>Aag	p.E273K		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	273	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				ACCATGGCCTCGTACTGACAC	0.622000													17	46					0	0	1	0	0
EARS2	124454	broad.mit.edu	37	16	23540859	23540859	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:23540859G>A	ENST00000449606.1	-	7	1347	c.1316C>T	c.(1315-1317)tCg>tTg	p.S439L	EARS2_ENST00000563232.1_Missense_Mutation_p.S439L|EARS2_ENST00000563459.1_Missense_Mutation_p.S439L|EARS2_ENST00000564501.1_Missense_Mutation_p.S439L|EARS2_ENST00000564987.1_5'UTR	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	439					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	CACCTTCTCCGAGATGGCGTC	0.607000													8	23					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103491447	103491447	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:103491447G>A	ENST00000358392.2	-	6	1159	c.842C>T	c.(841-843)tCc>tTc	p.S281F	COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Intron|COL11A1_ENST00000370096.3_Intron	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	281	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AAACTTTTTGGATTTTTCCTT	0.343000													17	62					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24993376	24993376	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:24993376C>T	ENST00000323848.9	+	13	2014	c.1699C>T	c.(1699-1701)Cct>Tct	p.P567S	SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.P579S|SRRM1_ENST00000374389.4_Missense_Mutation_p.P576S	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	567	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CGCCCCTCCTCCTCGACGGCG	0.542000													12	44					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134354664	134354664	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:134354664C>T	ENST00000357304.4	+	18	4839	c.4784C>T	c.(4783-4785)tCc>tTc	p.S1595F	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.S901F|PRRC2B_ENST00000405995.1_Missense_Mutation_p.S901F	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1595							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CGAGGCCTTTCCTCCCGTATT	0.527000													22	21					0	0	1	0	0
SLC7A7	9056	broad.mit.edu	37	14	23242856	23242856	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:23242856C>T	ENST00000397532.3	-	10	2024	c.1499G>A	c.(1498-1500)gGa>gAa	p.G500E	SLC7A7_ENST00000285850.7_Missense_Mutation_p.G500E|SLC7A7_ENST00000554517.1_Missense_Mutation_p.G234E|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000555702.1_Missense_Mutation_p.G500E|SLC7A7_ENST00000397528.4_Missense_Mutation_p.G500E|SLC7A7_ENST00000397529.2_Missense_Mutation_p.G500E			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	500					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		GGGCATCTCTCCTCCATCTTC	0.473000													12	52					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18622307	18622307	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:18622307G>A	ENST00000380548.4	+	5	880	c.541G>A	c.(541-543)Gat>Aat	p.D181N	ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.D181N|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.D181N|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.D181N|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.D181N	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	181						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTGCAACGGAGATGGGTCCAC	0.517000													18	39					0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7523420	7523420	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:7523420C>T	ENST00000359920.6	+	9	1893	c.1640C>T	c.(1639-1641)tCg>tTg	p.S547L	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.R505C|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.S389L	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	547	PH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CCCGTCATCTCGTTACAAAAG	0.552000													9	53					0	0	1	0	0
CYP27C1	339761	broad.mit.edu	37	2	127950744	127950744	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:127950744G>A	ENST00000335247.7	-	7	1058	c.928C>T	c.(928-930)Ccc>Tcc	p.P310S	CYP27C1_ENST00000409327.1_Missense_Mutation_p.P310S	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	310						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		TGACCAAAGGGGATGGATCCA	0.557000													20	38					0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58035302	58035302	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:58035302G>A	ENST00000395079.2	-	1	430	c.29C>T	c.(28-30)tCc>tTc	p.S10F		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				TTCTGGGCAGGAGGGATAGGC	0.453000													11	38					0	0	1	0	0
IL17RD	54756	broad.mit.edu	37	3	57131659	57131659	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:57131659G>A	ENST00000296318.7	-	12	2160	c.2072C>T	c.(2071-2073)tCc>tTc	p.S691F	IL17RD_ENST00000320057.5_Missense_Mutation_p.S547F|IL17RD_ENST00000463523.1_Missense_Mutation_p.S547F|IL17RD_ENST00000427856.2_Missense_Mutation_p.S667F	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	691						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		CTCCGTCAGGGAAGACGTTTC	0.587000													4	12					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803068	185803068	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:185803068G>A	ENST00000302277.6	+	4	3539	c.2945G>A	c.(2944-2946)gGa>gAa	p.G982E		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	982						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTTCCACAAGGAAAGATGAAT	0.418000													22	93					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718345	142718345	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:142718345G>A	ENST00000381779.4	-	2	805	c.580C>T	c.(580-582)Cct>Tct	p.P194S	SLITRK4_ENST00000356928.1_Missense_Mutation_p.P194S|SLITRK4_ENST00000338017.4_Missense_Mutation_p.P194S	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	194						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CCGATATAAGGGAGCTTCTGG	0.418000													27	29					0	0	1	0	0
AACSP1	729522	broad.mit.edu	37	5	178199438	178199438	+	RNA	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:178199438C>T	ENST00000503486.2	-	0	1097					NR_024035.1																						ACCGCGATGCCCTTGGTTTCC	0.612000													5	9					0	0	1	0	0
AP3S2	10239	broad.mit.edu	37	15	90378804	90378804	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:90378804C>T	ENST00000336418.4	-	6	917	c.525G>A	c.(523-525)cgG>cgA	p.R175R	AP3S2_ENST00000558011.1_Silent_p.R187R|AP3S2_ENST00000560940.1_Intron|C15orf38-AP3S2_ENST00000398333.3_Silent_p.R376R|AP3S2_ENST00000560771.1_5'UTR	NM_005829.4	NP_005820.1			adaptor-related protein complex 3, sigma 2 subunit											NS(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(1)	6	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			TGTTGATGTTCCGAGGAATCT	0.483000													35	105					0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10780308	10780308	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:10780308C>T	ENST00000075503.3	-	7	1169	c.649G>A	c.(649-651)Gat>Aat	p.D217N		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	217	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						AGAAGACCATCCATAGTCATC	0.398000										HNSCC(73;0.22)			8	47					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10647997	10647997	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:10647997G>A	ENST00000547195.1	-	8	1111	c.611C>T	c.(610-612)cCc>cTc	p.P204L	MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000421747.1_Missense_Mutation_p.P286L|MRVI1_ENST00000552103.1_Missense_Mutation_p.P204L|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000531107.1_Missense_Mutation_p.P287L|MRVI1_ENST00000527509.2_Missense_Mutation_p.P204L|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000436272.1_Missense_Mutation_p.P268L|MRVI1_ENST00000423302.2_Missense_Mutation_p.P295L	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	268					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GTACTGGAGGGGATCGAAGTT	0.547000													6	31					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20328586	20328586	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:20328586G>A	ENST00000302555.5	-	8	1514	c.1365C>T	c.(1363-1365)ttC>ttT	p.F455F	GP2_ENST00000341642.5_Silent_p.F308F|GP2_ENST00000381360.5_Silent_p.F311F|GP2_ENST00000381362.4_Silent_p.F458F			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	458	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CACAATGCAGGAAAACTAGGT	0.483000													11	27					0	0	1	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140740411	140740411	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140740411G>A	ENST00000522605.1	+	1	709	c.709G>A	c.(709-711)Gat>Aat	p.D237N	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGCCAACGATAACCCTCC	0.567000													18	68					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48697704	48697704	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:48697704C>T	ENST00000314191.2	-	78	11130	c.11074G>A	c.(11074-11076)Gag>Aag	p.E3692K	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.E3692K	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3693					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTCAGGAACTCCACTTTGAAG	0.453000								Non-homologous end-joining					12	45					0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121350826	121350826	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:121350826C>T	ENST00000314583.3	-	14	1419	c.1328G>A	c.(1327-1329)gGa>gAa	p.G443E	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.G406E	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	443	SH3.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CTCATCACTTCCCTCTGGGGA	0.522000													30	118					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179648464	179648464	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:179648464G>A	ENST00000589042.1	-	17	3048	c.2824C>T	c.(2824-2826)Cca>Tca	p.P942S	TTN_ENST00000342175.6_Missense_Mutation_p.P896S|TTN_ENST00000342992.6_Missense_Mutation_p.P942S|TTN_ENST00000359218.5_Missense_Mutation_p.P896S|TTN_ENST00000360870.5_Missense_Mutation_p.P942S|TTN_ENST00000591111.1_Missense_Mutation_p.P942S|TTN_ENST00000460472.2_Missense_Mutation_p.P896S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	942							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAGTTGGTGGAGTAACAGGA	0.353000													10	29					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922164	24922164	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:24922164G>A	ENST00000329468.2	+	1	1624	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		AATCTTGGAGGATAAAACAGA	0.537000													17	50					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103290785	103290785	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:103290785C>T	ENST00000424685.2	-	16	2097	c.1938G>A	c.(1936-1938)cgG>cgA	p.R646R	RELN_ENST00000428762.1_Silent_p.R646R|RELN_ENST00000343529.5_Silent_p.R646R			P78509	RELN_HUMAN	reelin	646					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCTGGTGTTCCGGGTTAGTG	0.418000													7	83					0	0	1	0	0
CXCR1	3577	broad.mit.edu	37	2	219029610	219029610	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:219029610G>A	ENST00000295683.2	-	2	445	c.325C>T	c.(325-327)Ctg>Ttg	p.L109L		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	109					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						ACCTTGCACAGGAATGTGCCA	0.557000													24	63					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43418303	43418303	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:43418303G>A	ENST00000039989.4	+	6	722	c.708G>A	c.(706-708)tgG>tgA	p.W236*	TTC17_ENST00000299240.6_Nonsense_Mutation_p.W236*|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	236							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CATTTTACTGGAGAATTAAGA	0.388000													6	53					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61498495	61498495	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:61498495G>A	ENST00000424789.2	+	25	5156	c.5152G>A	c.(5152-5154)Gga>Aga	p.G1718R	TANC2_ENST00000389520.4_Missense_Mutation_p.G1728R|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1718							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						ACCACAGATCGGACGCAGCCA	0.532000													39	203					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22156665	22156665	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:22156665G>A	ENST00000397126.4	-	4	1319	c.1171C>T	c.(1171-1173)Cat>Tat	p.H391Y	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTCCAGTATGAATTTTCTTA	0.378000													10	31					0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125626755	125626755	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:125626755C>T	ENST00000545511.1	+	7	5522	c.535C>T	c.(535-537)Cct>Tct	p.P179S	AACS_ENST00000316519.6_Missense_Mutation_p.P667S|AACS_ENST00000261686.6_Missense_Mutation_p.P599L|AACS_ENST00000543665.1_Missense_Mutation_p.P99S|AACS_ENST00000316543.10_Missense_Mutation_p.P265S			Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	667					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		CCGGGACATCCCTGAGCTGCA	0.537000													14	55					0	0	1	0	0
TBRG4	9238	broad.mit.edu	37	7	45141666	45141666	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:45141666C>T	ENST00000258770.3	-	8	1446	c.1325G>A	c.(1324-1326)gGc>gAc	p.G442D	TBRG4_ENST00000361278.3_Missense_Mutation_p.G332D|TBRG4_ENST00000494076.1_Missense_Mutation_p.G442D|TBRG4_ENST00000395655.4_Missense_Mutation_p.G332D	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	442					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CTGAGACTTGCCCCCTAGGAG	0.612000													4	140					0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91686132	91686132	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:91686132G>A	ENST00000375835.4	-	5	1071	c.765C>T	c.(763-765)ttC>ttT	p.F255F	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	255	PID.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CCCCAGAGGCGAAGGAGATGG	0.502000													6	37					0	0	1	0	0
CPSF6	11052	broad.mit.edu	37	12	69652651	69652651	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:69652651C>T	ENST00000435070.2	+	6	1086	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C	CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Missense_Mutation_p.R253C|CPSF6_ENST00000266679.8_Missense_Mutation_p.R363C	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	326	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CTTTCCACCTCGTCCACCCGG	0.672000													22	98					0	0	1	0	0
OR10H1	26539	broad.mit.edu	37	19	15918436	15918436	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:15918436G>A	ENST00000334920.2	-	1	500	c.412C>T	c.(412-414)Ccg>Tcg	p.P138S		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CAGCCCCGCGGGCTCATGAGC	0.647000													19	74					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179634931	179634931	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:179634931C>T	ENST00000589042.1	-	36	8721	c.8497G>A	c.(8497-8499)Gaa>Aaa	p.E2833K	TTN_ENST00000342175.6_Missense_Mutation_p.E2787K|TTN_ENST00000342992.6_Missense_Mutation_p.E2833K|TTN_ENST00000359218.5_Missense_Mutation_p.E2787K|TTN_ENST00000360870.5_Missense_Mutation_p.E2833K|TTN_ENST00000591111.1_Missense_Mutation_p.E2833K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E2787K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2571							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCTTAATTTCCACACTCTTA	0.458000													23	89					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119903608	119903608	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:119903608G>A	ENST00000313400.4	-	4	1265	c.1165C>T	c.(1165-1167)Cga>Tga	p.R389*	ASTN2_ENST00000373996.3_Nonsense_Mutation_p.R389*|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron			O75129	ASTN2_HUMAN	astrotactin 2	389						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGCCTACCTCGAGACTTGCTC	0.577000													7	30					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43615054	43615054	+	Missense_Mutation	SNP	G	G	A	rs142779213		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:43615054G>A	ENST00000355710.3	+	14	2700	c.2468G>A	c.(2467-2469)gGg>gAg	p.G823E	RET_ENST00000340058.5_Missense_Mutation_p.G823E	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	823	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CGCAAAGTGGGGCCTGGCTAC	0.687000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				12	34					0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32354733	32354733	+	Silent	SNP	G	G	A	rs150939868	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:32354733G>A	ENST00000375200.1	+	9	1664	c.1299G>A	c.(1297-1299)ccG>ccA	p.P433P	ZNF341_ENST00000342427.2_Silent_p.P426P			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GGGACAAGCCGGAGTCCAAGC	0.612000													64	280					0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60183350	60183350	+	Silent	SNP	T	T	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:60183350T>A	ENST00000300187.6	+	5	1186	c.909T>A	c.(907-909)gtT>gtA	p.V303V	MS4A14_ENST00000395005.2_Silent_p.V286V|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531787.1_Silent_p.V191V|MS4A14_ENST00000531783.1_Silent_p.V336V	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	303						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CACTCCAAGTTTTTCCATCCC	0.423000													11	55					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588185	247588185	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:247588185G>A	ENST00000366497.2	+	4	2220	c.1440G>A	c.(1438-1440)caG>caA	p.Q480Q	NLRP3_ENST00000366496.2_Silent_p.Q480Q|NLRP3_ENST00000348069.2_Silent_p.Q480Q|NLRP3_ENST00000391828.3_Silent_p.Q480Q|NLRP3_ENST00000336119.3_Silent_p.Q480Q|NLRP3_ENST00000391827.2_Silent_p.Q480Q|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	480	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCTGGAACCAGAAAATCCTGT	0.567000													26	36					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10725488	10725488	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:10725488G>A	ENST00000377022.3	-	5	474	c.157C>T	c.(157-159)Cac>Tac	p.H53Y	CASZ1_ENST00000478728.2_5'UTR|CASZ1_ENST00000344008.5_Missense_Mutation_p.H53Y	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCCTCCGTGTGGGAGCCGGCG	0.706000													6	53					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6655520	6655520	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:6655520C>T	ENST00000299441.3	-	3	2226	c.1815G>A	c.(1813-1815)gcG>gcA	p.A605A	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	605	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCACTATCCGCGTCTGTGG	0.572000													17	56					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24884069	24884069	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:24884069G>A	ENST00000396432.2	-	20	4249	c.3763C>T	c.(3763-3765)Cgt>Tgt	p.R1255C	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.R1042C	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1254	Rho-GAP.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTTTTCAGACGATCTAGAGGA	0.303000													6	24					0	0	1	0	0
ZNF721	170960	broad.mit.edu	37	4	436992	436992	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:436992G>A	ENST00000338977.5	-	2	1276	c.1228C>T	c.(1228-1230)Cgt>Tgt	p.R410C	ZNF721_ENST00000511833.2_Missense_Mutation_p.R422C|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						GCTCTGCCACGATCTTCACAT	0.378000													8	25					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144750811	144750811	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:144750811C>T	ENST00000367545.3	+	8	789	c.789C>T	c.(787-789)atC>atT	p.I263I		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	263					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TAGACGCCATCCGTGAGGTAG	0.373000													18	32					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39921213	39921213	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:39921213G>A	ENST00000393931.3	-	6	1134	c.1016C>T	c.(1015-1017)tCc>tTc	p.S339F	JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.S339F|JUP_ENST00000310706.5_Missense_Mutation_p.S339F	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	339					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GGGACACACGGATAGCACCTT	0.592000													67	120					0	0	1	0	0
OR10G3	26533	broad.mit.edu	37	14	22038238	22038238	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:22038238G>A	ENST00000303532.1	-	1	637	c.638C>T	c.(637-639)tCc>tTc	p.S213F		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		GAGGATCAGGGAGAAGCAACT	0.537000													31	110					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684355	100684355	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:100684355G>A	ENST00000306151.4	+	3	9722	c.9658G>A	c.(9658-9660)Gga>Aga	p.G3220R		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3220	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCTAGTGAAGGAATGACTCC	0.488000													92	412					0	0	1	0	0
IGHV7-81	28378	broad.mit.edu	37	14	107282999	107282999	+	RNA	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:107282999G>A	ENST00000390639.2	-	0	197																											CATAGGTGGTGAAACTGTAAC	0.567000													30	113					0	0	1	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140616485	140616485	+	RNA	SNP	T	T	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140616485T>G	ENST00000526308.1	+	0	2548					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						AGCCCCACCTTTCTGAATGGC	0.448000													6	23					0	0	1	0	0
FAM83E	54854	broad.mit.edu	37	19	49107094	49107094	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:49107094C>T	ENST00000263266.3	-	4	1022	c.833G>A	c.(832-834)aGc>aAc	p.S278N		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	278										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GAACTCAAGGCTGAAGGCGTC	0.682000													17	68					0	0	1	0	0
KCNK3	3777	broad.mit.edu	37	2	26950833	26950833	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:26950833C>T	ENST00000302909.3	+	2	707	c.582C>T	c.(580-582)ttC>ttT	p.F194F		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	194					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTACTGCTTCATCACCCTCA	0.612000													12	44					0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100198206	100198206	+	Missense_Mutation	SNP	T	T	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:100198206T>C	ENST00000241071.6	+	10	1749	c.1427T>C	c.(1426-1428)aTc>aCc	p.I476T	FBXO24_ENST00000468962.1_Missense_Mutation_p.I464T|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000360609.2_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.I514T	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	476						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGCCTATACATCCTGTCCAGC	0.647000													32	121					0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	154997067	154997067	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:154997067G>A	ENST00000368424.3	-	11	1681	c.1623C>T	c.(1621-1623)tcC>tcT	p.S541S	DCST2_ENST00000295536.5_Silent_p.S541S	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	541						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTACAGGTAGGAGATCCTCT	0.592000													13	60					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138330043	138330043	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:138330043C>T	ENST00000409968.1	+	17	3518	c.3340C>T	c.(3340-3342)Ccc>Tcc	p.P1114S	THSD7B_ENST00000272643.3_Missense_Mutation_p.P1117S|THSD7B_ENST00000413152.2_Missense_Mutation_p.P1086S|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGATGAAATTCCCCCAGAAAC	0.453000													9	36					0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18881490	18881490	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:18881490C>T	ENST00000388995.6	-	5	1712	c.1489G>A	c.(1489-1491)Gac>Aac	p.D497N	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.D497N|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.D497N|SLC5A10_ENST00000395647.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	497	Pro-rich.									central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGCTCAGGGTCCCCCTGGGGG	0.692000													22	56					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	275031	275031	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:275031G>A	ENST00000538872.1	+	11	3064	c.2946G>A	c.(2944-2946)acG>acA	p.T982T	IQSEC3_ENST00000382841.2_Silent_p.T679T|IQSEC3_ENST00000326261.4_Silent_p.T982T|RP11-598F7.5_ENST00000540136.1_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	982	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CTGAGGTGACGGAGCTGGAGC	0.597000													12	40					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133182591	133182591	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:133182591G>A	ENST00000388996.4	-	8	1645	c.1225C>T	c.(1225-1227)Cct>Tct	p.P409S	KCNQ3_ENST00000521134.1_Missense_Mutation_p.P289S|KCNQ3_ENST00000519445.1_Missense_Mutation_p.P409S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	409					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CTGAAGAAAGGAAAAGAGACG	0.542000													11	28					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139763744	139763744	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:139763744C>T	ENST00000303045.6	-	22	2488	c.2042G>A	c.(2041-2043)gGc>gAc	p.G681D	COL22A1_ENST00000435777.1_Missense_Mutation_p.G681D	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	681	Collagen-like 4.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCCTTCTGGGCCTATTGGACC	0.463000										HNSCC(7;0.00092)			15	41					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55221763	55221763	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:55221763C>T	ENST00000275493.2	+	7	984	c.807C>T	c.(805-807)ctC>ctT	p.L269L	EGFR_ENST00000442591.1_Silent_p.L269L|EGFR_ENST00000344576.2_Silent_p.L269L|EGFR_ENST00000342916.3_Silent_p.L269L|EGFR_ENST00000455089.1_Silent_p.L224L|EGFR_ENST00000420316.2_Silent_p.L269L|EGFR_ENST00000454757.2_Silent_p.L216L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	269					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CACTCATGCTCTACAACCCCA	0.577000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			27	82					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77375683	77375683	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:77375683G>A	ENST00000282849.5	-	11	2046	c.1628C>T	c.(1627-1629)tCa>tTa	p.S543L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	543	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GCACCAAAGTGATTTGCAAAT	0.373000													5	8					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44168965	44168965	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:44168965G>A	ENST00000262726.7	-	4	411	c.158C>T	c.(157-159)cCa>cTa	p.P53L	EFCAB6_ENST00000396231.2_Intron|EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000356087.4_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GGACAGTGTTGGATTTGCAAC	0.388000													24	34					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38530690	38530690	+	Missense_Mutation	SNP	C	C	T	rs111432615		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:38530690C>T	ENST00000263409.4	-	2	222	c.60G>A	c.(58-60)atG>atA	p.M20I	LIFR_ENST00000453190.2_Missense_Mutation_p.M20I|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	20					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AAGCAGTCCTCATTCTTTTAT	0.388000			T	PLAG1	salivary adenoma								17	76					0	0	1	0	0
MYO1C	4641	broad.mit.edu	37	17	1372852	1372852	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:1372852C>T	ENST00000359786.5	-	25	2907	c.2583G>A	c.(2581-2583)cgG>cgA	p.R861R	MYO1C_ENST00000545534.2_Silent_p.R837R|MYO1C_ENST00000438665.2_Silent_p.R842R|MYO1C_ENST00000575158.1_Silent_p.R826R|MYO1C_ENST00000361007.2_Silent_p.R826R	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	861					mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGCTGATACTCCGGCAGTATT	0.587000													6	16					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215955487	215955487	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:215955487C>T	ENST00000366943.2	-	54	11023	c.10637G>A	c.(10636-10638)gGa>gAa	p.G3546E	USH2A_ENST00000307340.3_Missense_Mutation_p.G3546E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3546	Fibronectin type-III 20.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAGTGATGTTCCCCGAAAACG	0.393000										HNSCC(13;0.011)			67	43					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21129740	21129740	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:21129740C>T	ENST00000377122.4	-	13	1662	c.1266G>A	c.(1264-1266)ggG>ggA	p.G422G	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	422					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCATTCCTTTCCCTTTTATCT	0.333000													4	10					0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47365945	47365945	+	RNA	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:47365945G>A	ENST00000505841.1	-	0	164					NR_002788.2																						TGTGGCCATAGAACCAGTGCG	0.483000													7	40					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897322	36897322	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:36897322C>T	ENST00000301807.6	-	12	4006	c.2109G>A	c.(2107-2109)gtG>gtA	p.V703V	TRANK1_ENST00000428977.2_Silent_p.V703V|TRANK1_ENST00000429976.2_Silent_p.V1253V	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1253			P -> L (in dbSNP:rs17201603).		DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGTCCCCATCCACCTCAGCCT	0.478000													31	111					0	0	1	0	0
SPATA5L1	79029	broad.mit.edu	37	15	45706829	45706829	+	Nonsense_Mutation	SNP	A	A	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:45706829A>T	ENST00000305560.6	+	4	1594	c.1495A>T	c.(1495-1497)Aag>Tag	p.K499*	SPATA5L1_ENST00000559860.1_Nonsense_Mutation_p.K499*	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	499						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GACACAACCAAAGGGAGTTCT	0.478000													10	44					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65103622	65103622	+	Missense_Mutation	SNP	T	T	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:65103622T>A	ENST00000358691.5	-	31	5070	c.4904A>T	c.(4903-4905)aAt>aTt	p.N1635I	HELZ_ENST00000580168.1_Missense_Mutation_p.N1636I	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GCTGTTATCATTAAAGTTAGA	0.473000													35	146					0	0	1	0	0
TAL1	6886	broad.mit.edu	37	1	47685646	47685646	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:47685646C>T	ENST00000371883.3	-	4	1324	c.748G>A	c.(748-750)Gag>Aag	p.E250K	TAL1_ENST00000371884.2_Missense_Mutation_p.E248K|TAL1_ENST00000294339.3_Missense_Mutation_p.E248K|TAL1_ENST00000459729.1_5'UTR			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	248					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GTGCCCTCCTCCTCCTGGTCA	0.642000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic								12	26					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33916058	33916058	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:33916058C>T	ENST00000389232.4	+	20	2478	c.2408C>T	c.(2407-2409)cCc>cTc	p.P803L	RYR3_ENST00000415757.3_Missense_Mutation_p.P803L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	803					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTCCTGCCTCCCTCTGGCTAT	0.418000													19	78					0	0	1	0	0
C4A	720	broad.mit.edu	37	6	31962437	31962437	+	Missense_Mutation	SNP	T	T	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:31962437T>G	ENST00000428956.2	+	21	2839	c.2755T>G	c.(2755-2757)Ttc>Gtc	p.F919V	C4A_ENST00000498271.1_Missense_Mutation_p.F919V	NM_007293.2	NP_009224.2			complement component 4A (Rodgers blood group)																		TCGAGGGTCCTTCGAATTCCC	0.627000													7	134					0	0	1	0	0
RRH	10692	broad.mit.edu	37	4	110763674	110763674	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:110763674C>T	ENST00000317735.4	+	6	804	c.770C>T	c.(769-771)tCc>tTc	p.S257F		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	257					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		TCCCCTTATTCCATCGTGTGC	0.398000													23	98					0	0	1	0	0
LOC101929006	101929006	broad.mit.edu	37	6	29231741	29231741	+	RNA	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:29231741C>T	ENST00000441381.1	+	0	212																											GACCATATTTCCCATCAAAGA	0.423000													55	105					0	0	1	0	0
CORO1A	11151	broad.mit.edu	37	16	30198041	30198041	+	Splice_Site	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:30198041G>A	ENST00000219150.5	+	3	626	c.321_splice	c.e3+1	p.M107_splice	CORO1A_ENST00000565497.1_Splice_Site_p.M107_splice|CORO1A_ENST00000570045.1_Splice_Site_p.M107_splice	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	107					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						GCACAGTCATGGTGAGTGGTG	0.622000													10	15					0	0	1	0	0
PLA1A	51365	broad.mit.edu	37	3	119336969	119336969	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:119336969G>A	ENST00000273371.4	+	7	930	c.858G>A	c.(856-858)aaG>aaA	p.K286K	PLA1A_ENST00000494440.1_Silent_p.K270K|PLA1A_ENST00000488919.1_Silent_p.K113K|PLA1A_ENST00000495992.1_Silent_p.K270K	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	286					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCAGCTACAAGGCCTTCCTTG	0.498000													66	245					0	0	1	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75557314	75557314	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:75557314C>T	ENST00000604729.1	+	18	3910	c.3613C>T	c.(3613-3615)Cgg>Tgg	p.R1205W	ZSWIM8_ENST00000605216.1_Missense_Mutation_p.R1200W|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.R1205W|NDST2_ENST00000456638.1_5'UTR|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.R1200W|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.R1167W					zinc finger, SWIM-type containing 8																		TGGAAGTCGCCGGGCCAGTGC	0.637000													19	69					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653852	159653852	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:159653852C>T	ENST00000297267.9	+	11	2508	c.2308C>T	c.(2308-2310)Cat>Tat	p.H770Y	FNDC1_ENST00000340366.6_Missense_Mutation_p.H707Y	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	770	Ser-rich.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CGTCTCTTCTCATCTCTCGTC	0.627000													10	29					0	0	1	0	0
FAM19A4	151647	broad.mit.edu	37	3	68788229	68788229	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:68788229C>T	ENST00000295569.7	-	5	900	c.408G>A	c.(406-408)acG>acA	p.T136T		NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	136						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		TACTTGCCTTCGTAGTTTTGA	0.408000													25	77					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1424418	1424418	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:1424418G>A	ENST00000381524.3	+	12	1309	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	CSF2RA_ENST00000381509.3_Missense_Mutation_p.E375K|CSF2RA_ENST00000501036.2_Missense_Mutation_p.E242K|CSF2RA_ENST00000381529.3_Missense_Mutation_p.E375K|CSF2RA_ENST00000432318.2_Missense_Mutation_p.E375K|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000417535.2_Missense_Mutation_p.E409K|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000355432.3_Intron			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	375						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GGTGGAAGACGAGGTAGGCAG	0.567000													21	63					0	0	1	0	0
PPP1R3F	89801	broad.mit.edu	37	X	49142438	49142438	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:49142438C>T	ENST00000055335.6	+	4	1302	c.1286C>T	c.(1285-1287)tCc>tTc	p.S429F	PPP1R3F_ENST00000376188.1_Missense_Mutation_p.S83F|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.S100F|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.S83F|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.S83F	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	429						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CTGGGTGGCTCCCCCAGAGAC	0.667000													3	14					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47578885	47578885	+	Silent	SNP	C	C	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:47578885C>A	ENST00000273859.3	+	19	3731	c.3462C>A	c.(3460-3462)ctC>ctA	p.L1154L		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1154					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TCAACCTCCTCTTCACATCTG	0.438000													62	171					4.46356e-37	4.51462e-37	1	1	0
CSMD3	114788	broad.mit.edu	37	8	114031325	114031325	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:114031325C>T	ENST00000297405.5	-	6	1245	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q	CSMD3_ENST00000455883.2_Missense_Mutation_p.R334Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.R334Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R294Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	334	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCACGGTATCGATGATTGCT	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			21	83					0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180374516	180374516	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:180374516C>T	ENST00000231229.4	+	4	912	c.678C>T	c.(676-678)acC>acT	p.T226T	BTNL8_ENST00000340184.4_Silent_p.T226T|BTNL8_ENST00000533815.2_Silent_p.T42T|BTNL8_ENST00000400707.3_Silent_p.T101T|BTNL8_ENST00000508408.1_Silent_p.T226T|BTNL8_ENST00000505126.1_Silent_p.T19T|BTNL8_ENST00000511704.1_Silent_p.T110T	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	226						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTTCAGATACCTTTTTCGAGC	0.403000													48	167					0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78374167	78374167	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:78374167C>T	ENST00000238561.5	+	7	862	c.763C>T	c.(763-765)Ctg>Ttg	p.L255L	ADCK1_ENST00000341211.5_Silent_p.L187L	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	262	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CCACTGGGACCTGTCCACGGA	0.577000													13	18					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141777598	141777598	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:141777598C>T	ENST00000389484.3	-	12	2834	c.1863G>A	c.(1861-1863)agG>agA	p.R621R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	621					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAATGGTTTTCCTATGGCCAT	0.418000										TSP Lung(27;0.18)			27	83					0	0	1	0	0
COL23A1	91522	broad.mit.edu	37	5	177690242	177690242	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:177690242C>T	ENST00000390654.3	-	9	963	c.606G>A	c.(604-606)ggG>ggA	p.G202G	COL23A1_ENST00000407622.1_Silent_p.G166G	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	202	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		GGCCATCTTTCCCAGTGTCGC	0.647000													9	34					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119106967	119106967	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:119106967G>A	ENST00000328252.3	+	14	4126	c.3757G>A	c.(3757-3759)Gat>Aat	p.D1253N	PAPPA_ENST00000534838.1_Missense_Mutation_p.D291N	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1253	Sushi 1.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GATACGGCGGGATGATGAGCT	0.567000													13	12					0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17370413	17370413	+	Silent	SNP	T	T	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:17370413T>C	ENST00000252597.3	-	6	1070	c.897A>G	c.(895-897)caA>caG	p.Q299Q	USHBP1_ENST00000431146.2_Silent_p.Q235Q	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	299							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						ACCCCCGGAGTTGCTCCATCT	0.567000													50	232					0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	237057714	237057714	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:237057714C>T	ENST00000366577.5	+	30	3656	c.3262C>T	c.(3262-3264)Ccc>Tcc	p.P1088S	MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_Missense_Mutation_p.P1037S	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1088	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CTTCATCGCTCCCTTGCATTC	0.562000													14	113					0	0	1	0	0
SAMD14	201191	broad.mit.edu	37	17	48195043	48195043	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:48195043C>T	ENST00000330175.4	-	4	544	c.227G>A	c.(226-228)gGg>gAg	p.G76E	SAMD14_ENST00000503734.1_5'UTR|SAMD14_ENST00000503131.1_Missense_Mutation_p.G76E	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	76										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						CAGGGGGCTCCCGCAGCCATC	0.706000													4	12					0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158152067	158152067	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:158152067C>T	ENST00000368171.3	+	4	1073	c.574C>T	c.(574-576)Ctt>Ttt	p.L192F		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	192	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CAGTGGCCTCCTTGAGTCAGG	0.542000													22	288					0	0	1	0	0
H2BFWT	158983	broad.mit.edu	37	X	103268115	103268115	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:103268115C>T	ENST00000217926.5	-	1	144	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	40					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						ATCAGCTGTTCCTCAGAGGTC	0.637000													11	13					0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3218304	3218304	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:3218304C>T	ENST00000380056.3	-	1	69	c.22G>A	c.(22-24)Gga>Aga	p.G8R	SLC4A11_ENST00000474451.1_Intron|SLC4A11_ENST00000539553.1_Intron|SLC4A11_ENST00000380059.3_Intron	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	8					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CACCTGTCTCCCCGCCCCCCG	0.622000													31	117					0	0	1	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377328	125377328	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:125377328C>T	ENST00000297913.2	+	1	381	c.312C>T	c.(310-312)ttC>ttT	p.F104F	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						CTTATTTCTTCATTTGCTTCG	0.468000													75	106					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81611886	81611886	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:81611886G>A	ENST00000356860.3	-	24	2290	c.1952C>T	c.(1951-1953)cCa>cTa	p.P651L	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.P663L	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	663						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AACCAACCTTGGTGCTATGAA	0.373000													10	67					0	0	1	0	0
KIAA0895	23366	broad.mit.edu	37	7	36366506	36366506	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:36366506G>A	ENST00000317020.6	-	6	1573	c.1273C>T	c.(1273-1275)Cgc>Tgc	p.R425C	KIAA0895_ENST00000297063.6_Missense_Mutation_p.R476C|KIAA0895_ENST00000338533.5_Missense_Mutation_p.R463C|KIAA0895_ENST00000436884.1_Missense_Mutation_p.R373C|KIAA0895_ENST00000440378.1_Missense_Mutation_p.R473C|KIAA0895_ENST00000453212.1_Missense_Mutation_p.R231C	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN	KIAA0895	476								p.R476C(1)|p.R463C(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCTTTTAAGCGATCCACATCT	0.383000													21	81					0	0	1	0	0
MIR329-1	574408	broad.mit.edu	37	14	101493169	101493169	+	RNA	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:101493169G>A	ENST00000385028.1	+	0	48					NR_029967.1																						TAATGAGGACGAAACACACCT	0.468000													18	86					0	0	1	0	0
BTG1	694	broad.mit.edu	37	12	92537926	92537926	+	Missense_Mutation	SNP	C	C	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:92537926C>A	ENST00000256015.3	-	2	807	c.446G>T	c.(445-447)tGt>tTt	p.C149F		NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	149					cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				TTCCTCCTTACAGCTGATTCG	0.473000			T	MYC	BCLL						OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	62					5.26018e-13	5.30757e-13	1	1	0
AFAP1	60312	broad.mit.edu	37	4	7774577	7774577	+	Silent	SNP	G	G	A	rs145238950		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:7774577G>A	ENST00000420658.1	-	16	2495	c.2223C>T	c.(2221-2223)atC>atT	p.I741I	AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000358461.2_Silent_p.I657I|AFAP1_ENST00000382543.3_Silent_p.I741I|AFAP1_ENST00000360265.4_Silent_p.I657I	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	657						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						ACTTGGGCTCGATGGCCAGCC	0.667000													10	40					0	0	1	0	0
APOBR	55911	broad.mit.edu	37	16	28509528	28509528	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:28509528G>A	ENST00000564831.1	+	3	3115	c.3082G>A	c.(3082-3084)Gag>Aag	p.E1028K	APOBR_ENST00000431282.1_Missense_Mutation_p.E1019K|APOBR_ENST00000328423.5_Missense_Mutation_p.E1019K	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	1019					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCAGCAGGAGGAGCCCCCAGC	0.662000													4	15					0	0	1	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166250	180166250	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:180166250C>T	ENST00000307832.2	-	1	849	c.809G>A	c.(808-810)gGa>gAa	p.G270E		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AACAAATTTTCCCTCACGCTC	0.413000													30	108					0	0	1	0	0
PRKRIR	5612	broad.mit.edu	37	11	76063411	76063411	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:76063411G>A	ENST00000260045.3	-	5	888	c.783C>T	c.(781-783)tcC>tcT	p.S261S		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	261					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						CAGTGATAATGGAAAAGAAGT	0.428000													23	48					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2876151	2876151	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:2876151G>A	ENST00000520002.1	-	53	8435	c.7880C>T	c.(7879-7881)tCc>tTc	p.S2627F	CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.S2627F|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.S2626F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2627	Sushi 17.					integral to membrane		p.S2355F(1)|p.S2626F(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGGGGGAAAGGAAAGGCTTCC	0.423000													26	70					0	0	1	0	0
VSIG2	23584	broad.mit.edu	37	11	124620743	124620743	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:124620743G>A	ENST00000403470.1	-	3	349	c.294C>T	c.(292-294)ccC>ccT	p.P98P	VSIG2_ENST00000326621.5_Silent_p.P98P			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	98	Ig-like V-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		CCACTGTGGGGGGGTTCTGAA	0.532000													12	34					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94041910	94041910	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:94041910C>T	ENST00000297268.6	+	25	1890	c.1419C>T	c.(1417-1419)atC>atT	p.I473I		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	473					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCCTGGCATCGACGGCAGGC	0.517000										HNSCC(75;0.22)			12	25					0	0	1	0	0
DCTN5	84516	broad.mit.edu	37	16	23672551	23672551	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:23672551C>T	ENST00000300087.2	+	4	448	c.297C>T	c.(295-297)gtC>gtT	p.V99V	DCTN5_ENST00000568589.1_Silent_p.V99V|DCTN5_ENST00000563998.1_Silent_p.V99V	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	99						centrosome	transferase activity			endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		ATTGTGTGGTCAACGCAGCAC	0.418000													10	46					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	6885221	6885221	+	Missense_Mutation	SNP	C	C	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:6885221C>G	ENST00000303635.7	+	3	392	c.185C>G	c.(184-186)cCg>cGg	p.P62R	CAMTA1_ENST00000467404.2_Missense_Mutation_p.P74R|CAMTA1_ENST00000473578.1_Missense_Mutation_p.P62R|CAMTA1_ENST00000557126.1_Missense_Mutation_p.P62R|CAMTA1_ENST00000439411.2_Missense_Mutation_p.P62R|CAMTA1_ENST00000476163.1_3'UTR	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GAATGTCTGCCGAAATGTTCA	0.323000			T	WWTR1	epitheliod hemangioendothelioma								20	45					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24923764	24923764	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:24923764G>A	ENST00000329468.2	+	1	3224	c.2750G>A	c.(2749-2751)gGg>gAg	p.G917E		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TTTATTCTGGGGAATCCAGCA	0.478000													29	110					0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	69972245	69972245	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:69972245C>T	ENST00000355303.5	+	10	1346	c.1041C>T	c.(1039-1041)atC>atT	p.I347I	ANO1_ENST00000316296.5_Silent_p.I319I|ANO1_ENST00000538023.1_Silent_p.I347I|ANO1_ENST00000530676.1_Silent_p.I231I|ANO1_ENST00000398543.2_Silent_p.I231I|ANO1_ENST00000531349.1_Silent_p.I82I	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	347					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CTGCCTCCATCGTGGGAATCA	0.592000													14	49					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73461026	73461026	+	Splice_Site	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:73461026G>A	ENST00000252034.7	+	12	971	c.571_splice	c.e12-1	p.G191_splice	ELN_ENST00000380553.4_Splice_Site_p.G88_splice|ELN_ENST00000380576.5_Splice_Site_p.G191_splice|ELN_ENST00000380562.4_Splice_Site_p.G191_splice|ELN_ENST00000414324.1_Splice_Site_p.G186_splice|ELN_ENST00000429192.1_Splice_Site_p.G196_splice|ELN_ENST00000380575.4_Splice_Site_p.G181_splice|ELN_ENST00000320399.6_Splice_Site_p.G191_splice|ELN_ENST00000320492.7_Splice_Site_p.G169_splice|ELN_ENST00000458204.1_Splice_Site_p.G181_splice|ELN_ENST00000357036.5_Splice_Site_p.G196_splice|ELN_ENST00000445912.1_Splice_Site_p.G191_splice|ELN_ENST00000380584.4_Splice_Site_p.G191_splice|ELN_ENST00000358929.4_Splice_Site_p.G191_splice	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	191					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	ATTCCCACAGGAGTTGGACCC	0.582000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						11	63					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048299	42048299	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:42048299C>T	ENST00000372584.1	-	3	3184	c.2170G>A	c.(2170-2172)Gag>Aag	p.E724K	HIVEP3_ENST00000372583.1_Missense_Mutation_p.E724K|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E724K|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E724K	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	724	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGCTCTTCCTCGTCCCCAAGG	0.557000													15	57					0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132400953	132400953	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:132400953C>T	ENST00000321867.4	+	20	2240	c.1889C>T	c.(1888-1890)tCc>tTc	p.S630F		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	630					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GCTGTGCCCTCCTTTGACTTC	0.687000													23	110					0	0	1	0	0
TCF7L2	6934	broad.mit.edu	37	10	114925695	114925695	+	Silent	SNP	C	C	T	rs66702705		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:114925695C>T	ENST00000545257.1	+	15	2331	c.1824C>T	c.(1822-1824)ccC>ccT	p.P608P	TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000536810.1_Silent_p.P591P|TCF7L2_ENST00000543371.1_Silent_p.P591P|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000355995.4_Silent_p.P608P|TCF7L2_ENST00000542695.1_Silent_p.P324P|TCF7L2_ENST00000369397.4_Silent_p.P585P			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	608					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GGACCCAGCCCCAGCCGCTGT	0.562000			T	VTI1A	colorectal								19	94					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80620361	80620361	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:80620361C>T	ENST00000466387.1	+	12	1806	c.1082C>T	c.(1081-1083)cCt>cTt	p.P361L	CTNNA2_ENST00000541047.1_Missense_Mutation_p.P361L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.P361L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.P361L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.P395L|CTNNA2_ENST00000343114.3_Missense_Mutation_p.P40L|CTNNA2_ENST00000402739.4_Missense_Mutation_p.P361L			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	361					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AAAGGAGATCCTCTCAACATT	0.289000													11	60					0	0	1	0	0
HCAR3	8843	broad.mit.edu	37	12	123200386	123200386	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:123200386G>A	ENST00000528880.2	-	1	1053	c.899C>T	c.(898-900)tCc>tTc	p.S300F	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	300						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	GTTGGGAAAGGATGGGCTGGA	0.537000													8	24					0	0	1	0	0
SPOCK1	6695	broad.mit.edu	37	5	136476275	136476275	+	Missense_Mutation	SNP	A	A	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:136476275A>G	ENST00000394945.1	-	4	510	c.341T>C	c.(340-342)cTc>cCc	p.L114P	SPOCK1_ENST00000282223.7_Missense_Mutation_p.L114P	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	114					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTACCTGGGGAGCAGGTGCTT	0.612000													7	20					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43862509	43862509	+	Splice_Site	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:43862509C>T	ENST00000389420.3	-	8	1117		c.e8-1		ADAMTS20_ENST00000553158.1_Splice_Site	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20							proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TATGATAAACCTGAAAAATTT	0.294000													8	31					0	0	1	0	0
ELP4	26610	broad.mit.edu	37	11	31669308	31669308	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:31669308G>A	ENST00000395934.2	+	8	954	c.947G>A	c.(946-948)cGt>cAt	p.R316H	ELP4_ENST00000379163.5_Missense_Mutation_p.R317H|Z83001.1_ENST00000429821.1_RNA|ELP4_ENST00000350638.5_Missense_Mutation_p.R316H			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	316					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					ATTATTGCCCGTGTCACAACC	0.333000													22	71					0	0	1	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44507259	44507259	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:44507259C>T	ENST00000255152.2	+	2	2271	c.2062C>T	c.(2062-2064)Cct>Tct	p.P688S	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.P682S	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	688							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GGAGGGATTCCCTCCTGCTAC	0.527000													46	89					0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45938942	45938942	+	Silent	SNP	G	G	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:45938942G>T	ENST00000374391.2	+	11	1583	c.1530G>T	c.(1528-1530)gtG>gtT	p.V510V	ALOX5_ENST00000542434.1_Silent_p.V510V	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	510	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	AGGACTTCGTGAACGATGTCT	0.692000													8	36					0.000274275	0.000275094	1	1	0
ST18	9705	broad.mit.edu	37	8	53044608	53044608	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:53044608C>T	ENST00000276480.7	-	22	3259	c.2576G>A	c.(2575-2577)tGg>tAg	p.W859*		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	859						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GTTCAGTTTCCAGGAGAGGGA	0.498000													16	56					0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117146260	117146260	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:117146260G>A	ENST00000369486.3	-	6	2375	c.1610C>T	c.(1609-1611)tCc>tTc	p.S537F	IGSF3_ENST00000369483.1_Missense_Mutation_p.S557F|IGSF3_ENST00000318837.6_Missense_Mutation_p.S557F	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	537	Ig-like C2-type 4.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGCTGTGATGGAGATGGGAGT	0.577000													12	51					0	0	1	0	0
CAPN15	6650	broad.mit.edu	37	16	597450	597450	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:597450C>T	ENST00000219611.2	+	4	975	c.612C>T	c.(610-612)ctC>ctT	p.L204L	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15																		CACCTGGCCTCCCCGGGGAAG	0.741000													5	13					0	0	1	0	0
SLC16A12	387700	broad.mit.edu	37	10	91195977	91195977	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:91195977G>A	ENST00000341233.4	-	7	1428	c.1038C>T	c.(1036-1038)ctC>ctT	p.L346L	SLC16A12_ENST00000371790.4_Silent_p.L376L	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	346						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						AGAAAGGCACGAGCAGAGGGA	0.493000													11	45					0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679555	160679555	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:160679555C>T	ENST00000366952.1	-	3	1653	c.172G>A	c.(172-174)Gga>Aga	p.G58R	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Missense_Mutation_p.G79R			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	79					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CCCGCAGGTCCTGGGCCCGGC	0.682000													23	48					0	0	1	0	0
TRBV7-7	28591	broad.mit.edu	37	7	142120278	142120278	+	RNA	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:142120278C>T	ENST00000390377.1	-	0	43																											CTCACCTGTCCCTAGGAAACC	0.488000													81	139					0	0	1	0	0
LPAR3	23566	broad.mit.edu	37	1	85331620	85331620	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:85331620G>A	ENST00000440886.1	-	1	222	c.184C>T	c.(184-186)Cat>Tat	p.H62Y	LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Missense_Mutation_p.H62Y			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	62					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						AAGGGGAAATGAAATTTTCTG	0.393000													28	98					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35691312	35691312	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:35691312G>A	ENST00000440995.2	+	11	1698	c.1698G>A	c.(1696-1698)ggG>ggA	p.G566G	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Silent_p.G566G|SPEF2_ENST00000356031.3_Silent_p.G566G			Q9C093	SPEF2_HUMAN	sperm flagellar 2	566					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCTTATTGGGGAAAACATTAA	0.398000													28	78					0	0	1	0	0
APOM	55937	broad.mit.edu	37	6	31624326	31624326	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:31624326C>T	ENST00000375916.3	+	2	688	c.192C>T	c.(190-192)gaC>gaT	p.D64D	APOM_ENST00000375918.2_5'UTR|APOM_ENST00000375920.4_5'UTR	NM_019101.2	NP_061974.2	O95445	APOM_HUMAN	apolipoprotein M	64					cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1)	7						CAACTTTTGACCCTGTGGACA	0.557000													26	145					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373279	86373279	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:86373279C>T	ENST00000604798.1	-	8	2429	c.1225G>A	c.(1225-1227)Gga>Aga	p.G409R	MGAT4C_ENST00000393205.2_Missense_Mutation_p.G438R|MGAT4C_ENST00000332156.1_Missense_Mutation_p.G409R|MGAT4C_ENST00000548651.1_Missense_Mutation_p.G409R|MGAT4C_ENST00000549405.2_Missense_Mutation_p.G409R|MGAT4C_ENST00000552808.2_Missense_Mutation_p.G409R			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	409					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.G409*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TCTAGGGCTCCATGATGCAAA	0.313000													7	55					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24522949	24522949	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:24522949C>T	ENST00000355123.4	-	12	1616	c.1173G>A	c.(1171-1173)agG>agA	p.R391R	ITSN2_ENST00000361999.3_Silent_p.R391R|ITSN2_ENST00000406921.3_Silent_p.R391R	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	391					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTCTGCCTCCCTTTGTTGCT	0.438000													41	145					0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269244	150269244	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:150269244C>T	ENST00000255945.2	+	3	261	c.86C>T	c.(85-87)tCc>tTc	p.S29F	GIMAP4_ENST00000461940.1_Missense_Mutation_p.S43F|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	29							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCAGAAATTCCCAATTGAGA	0.463000													15	99					0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147889195	147889195	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:147889195G>A	ENST00000360693.3	-	6	1038	c.900C>T	c.(898-900)ctC>ctT	p.L300L	HTR4_ENST00000520514.1_Silent_p.L300L|HTR4_ENST00000521530.1_Silent_p.L300L|HTR4_ENST00000314512.6_Silent_p.L300L|HTR4_ENST00000354217.2_Silent_p.L300L|HTR4_ENST00000362016.2_Silent_p.L314L|HTR4_ENST00000517929.1_Silent_p.L300L|HTR4_ENST00000521735.1_Silent_p.L300L|HTR4_ENST00000377888.3_Silent_p.L300L	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	300					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	TGATATAGCCGAGCCAGAGGA	0.493000													6	61					0	0	1	0	0
POR	5447	broad.mit.edu	37	7	75583414	75583414	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:75583414C>T	ENST00000394893.1	+	2	124	c.104C>T	c.(103-105)tCg>tTg	p.S35L	POR_ENST00000419840.1_5'UTR|POR_ENST00000461988.1_Missense_Mutation_p.S35L			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	32					cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	ATTCTGTTTTCGCTCATCGTG	0.502000													4	18					0	0	1	0	0
INSIG1	3638	broad.mit.edu	37	7	155093325	155093325	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:155093325C>T	ENST00000340368.4	+	3	673	c.462C>T	c.(460-462)ccC>ccT	p.P154P	INSIG1_ENST00000344756.4_Intron|INSIG1_ENST00000342407.5_Intron	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	154					cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCGGAGAACCCCACAAATTTA	0.438000													23	172					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891447	18891447	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:18891447G>A	ENST00000317658.3	+	1	403	c.245G>A	c.(244-246)cGa>cAa	p.R82Q		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	82					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GGCGACTACCGATTTTTTGAC	0.418000													16	54					0	0	1	0	0
RCOR3	55758	broad.mit.edu	37	1	211451545	211451545	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:211451545G>A	ENST00000367005.4	+	5	570	c.429G>A	c.(427-429)caG>caA	p.Q143Q	RCOR3_ENST00000367006.4_Silent_p.Q201Q|RCOR3_ENST00000419091.2_Silent_p.Q201Q|RCOR3_ENST00000452621.2_Silent_p.Q201Q	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		TGGATCGCCAGGCTCGTAAAC	0.363000													22	195					0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95033382	95033382	+	Missense_Mutation	SNP	G	G	A	rs140397956		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:95033382G>A	ENST00000557004.1	+	3	1146	c.725G>A	c.(724-726)cGg>cAg	p.R242Q	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.R242Q|SERPINA4_ENST00000298841.5_Missense_Mutation_p.R242Q			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	242					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.R242Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		ACAACAGTCCGGGTGCCCATG	0.498000													19	42					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103927	53103927	+	Missense_Mutation	SNP	G	G	A	rs1689291		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:53103927G>A	ENST00000408890.4	+	1	579	c.563G>A	c.(562-564)gGa>gAa	p.G188E		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	188			G -> E (in dbSNP:rs1689291).							endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGCCCCAAGGGAAGCGCTAGG	0.716000													25	103					0	0	1	0	0
C22orf43	51233	broad.mit.edu	37	22	23959838	23959838	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:23959838G>A	ENST00000317749.5	-	7	740	c.443C>T	c.(442-444)tCt>tTt	p.S148F		NM_016449.3	NP_057533.2	Q6PGQ1	CV043_HUMAN	chromosome 22 open reading frame 43	148	Asp-rich.									endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						GTTGTCCTCAGAAGAACCTGG	0.473000													23	50					0	0	1	0	0
PROC	5624	broad.mit.edu	37	2	128178999	128178999	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:128178999G>A	ENST00000453608.2	+	3	282	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	PROC_ENST00000234071.3_Missense_Mutation_p.E71K|PROC_ENST00000409048.1_Missense_Mutation_p.E71K|PROC_ENST00000422777.3_Missense_Mutation_p.E71K			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	71					blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GGAGGCCAAGGAAATTTTCCA	0.587000													16	39					0	0	1	0	0
LBP	3929	broad.mit.edu	37	20	36993331	36993331	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:36993331G>A	ENST00000217407.2	+	8	1007	c.846G>A	c.(844-846)tcG>tcA	p.S282S		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	282					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TTGCCATCTCGGATTATGTCT	0.473000													73	128					0	0	1	0	0
ITPRIPL2	162073	broad.mit.edu	37	16	19126642	19126642	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:19126642C>T	ENST00000381440.3	+	1	1389	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	287						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GGAACAGCCCCCCACCTTACA	0.632000											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	99					0	0	1	0	0
NEUROD2	4761	broad.mit.edu	37	17	37762256	37762256	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:37762256G>A	ENST00000302584.4	-	2	817	c.597C>T	c.(595-597)ccC>ccT	p.P199P		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	199					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			GATTGGTGGTGGGCTGCGACA	0.652000													8	27					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139696702	139696702	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:139696702C>T	ENST00000303045.6	-	39	3424	c.2978G>A	c.(2977-2979)gGa>gAa	p.G993E	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G993E	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	993	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCCAGGTGATCCACGGAGTCC	0.512000										HNSCC(7;0.00092)			50	99					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79391213	79391213	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:79391213G>A	ENST00000264895.6	+	51	7779	c.7339G>A	c.(7339-7341)Gga>Aga	p.G2447R		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2446					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CACCAACCTGGGACTCCAGTG	0.532000													13	26					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072780	17072780	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:17072780C>T	ENST00000359963.3	-	1	920	c.661G>A	c.(661-663)Ggg>Agg	p.G221R		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	221					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ATTGCTAACCCCGGGAGGAGG	0.597000													14	518					0	0	1	0	0
C1orf116	79098	broad.mit.edu	37	1	207196515	207196515	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:207196515G>A	ENST00000359470.5	-	4	843	c.594C>T	c.(592-594)atC>atT	p.I198I	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	198						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					CTGGCGGAGGGATGAGCACCA	0.662000													128	209					0	0	1	0	0
SAFB2	9667	broad.mit.edu	37	19	5610023	5610023	+	Missense_Mutation	SNP	A	A	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:5610023A>C	ENST00000252542.4	-	9	1543	c.1279T>G	c.(1279-1281)Ttc>Gtc	p.F427V	SAFB2_ENST00000591310.1_5'UTR	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	427	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TACTTGCTGAAAAGGTTCTTG	0.557000													8	25					0	0	1	0	0
FIP1L1	81608	broad.mit.edu	37	4	54256001	54256001	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:54256001C>T	ENST00000507166.1	+	6	358	c.358C>T	c.(358-360)Ctt>Ttt	p.L120F	FIP1L1_ENST00000510668.1_3'UTR|FIP1L1_ENST00000507922.1_Missense_Mutation_p.L105F|FIP1L1_ENST00000358575.5_Missense_Mutation_p.L105F|FIP1L1_ENST00000337488.6_Missense_Mutation_p.L120F|FIP1L1_ENST00000306932.6_Missense_Mutation_p.L105F			Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	120	Necessary for stimulating PAPOLA activity.				mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACCTGTAAATCTTAACATCAA	0.308000			T	PDGFRA	idiopathic hypereosinophilic syndrome								9	43					0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28857793	28857793	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:28857793C>T	ENST00000357727.2	+	10	1750	c.1360C>T	c.(1360-1362)Cta>Tta	p.L454L	CREB5_ENST00000409603.1_Silent_p.L421L|CREB5_ENST00000396298.2_Silent_p.L315L|CREB5_ENST00000396299.2_Silent_p.L421L|CREB5_ENST00000396300.2_Silent_p.L447L	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	454					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						ACAAGGATATCTAAGTAAGTC	0.368000													27	43					0	0	1	0	0
KIAA0408	9729	broad.mit.edu	37	6	127771326	127771326	+	Missense_Mutation	SNP	T	T	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:127771326T>G	ENST00000483725.3	-	3	643	c.307A>C	c.(307-309)Aaa>Caa	p.K103Q	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	103							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TTATTTTCTTTTCTCAGACCA	0.358000													20	38					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121136	38121136	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:38121136C>T	ENST00000406386.3	+	7	2828	c.2573C>T	c.(2572-2574)tCc>tTc	p.S858F	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	858					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.S858F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CAGTCCTTTTCCTTTCAACGA	0.488000													33	208					0	0	1	0	0
SMTN	6525	broad.mit.edu	37	22	31493300	31493300	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:31493300C>T	ENST00000333137.7	+	16	2353	c.2135C>T	c.(2134-2136)tCc>tTc	p.S712F	SMTN_ENST00000358743.1_Missense_Mutation_p.S712F|SMTN_ENST00000404574.1_Missense_Mutation_p.S235F|SMTN_ENST00000347557.2_Missense_Mutation_p.S712F	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	712	Poly-Ser.				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						TTCTCCTCTTCCTCCTCATCC	0.557000													92	80					0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921495	78921495	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:78921495C>T	ENST00000261751.3	-	5	1263	c.1152G>A	c.(1150-1152)ggG>ggA	p.G384G	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	384					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						ACATGGAGTTCCCATAGAAGT	0.647000													9	26					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110478892	110478892	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:110478892C>T	ENST00000378402.5	+	50	8603	c.8499C>T	c.(8497-8499)ttC>ttT	p.F2833F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2833					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCATTGGGTTCCCTGGATCAG	0.478000										HNSCC(38;0.096)			9	13					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5745945	5745945	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:5745945C>T	ENST00000381624.3	+	9	740	c.679C>T	c.(679-681)Cac>Tac	p.H227Y	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	227						integral to membrane											GTACTCAGATCACCCCCTCAA	0.532000													65	201					0	0	1	0	0
MAN2C1	4123	broad.mit.edu	37	15	75651149	75651149	+	Splice_Site	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:75651149C>T	ENST00000565683.1	-	19	2204	c.2192_splice	c.e19-1	p.R731_splice	MAN2C1_ENST00000563622.1_Splice_Site_p.R615_splice|MAN2C1_ENST00000267978.5_Splice_Site_p.R714_splice|MAN2C1_ENST00000569482.1_Splice_Site_p.R714_splice	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	714					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CAATGGCCTCCCTGGAAGGAC	0.572000													4	14					0	0	1	0	0
GAPDH	2597	broad.mit.edu	37	12	6644007	6644007	+	Translation_Start_Site	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:6644007G>A	ENST00000396856.1	+	0	70				GAPDH_ENST00000396861.1_Silent_p.K3K|GAPDH_ENST00000396859.1_Silent_p.K3K|GAPDH_ENST00000229239.5_Silent_p.K3K			P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase						gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	CCATGGGGAAGGTGAAGGTCG	0.706000													8	59					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141232874	141232874	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:141232874G>A	ENST00000389484.3	-	60	10429	c.9458C>T	c.(9457-9459)cCt>cTt	p.P3153L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3153					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCCAATATGAGGATACTCGCA	0.353000										TSP Lung(27;0.18)			13	28					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35619164	35619164	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr13:35619164C>T	ENST00000540320.1	+	3	1141	c.607C>T	c.(607-609)Cga>Tga	p.R203*	NBEA_ENST00000379939.2_Nonsense_Mutation_p.R203*|NBEA_ENST00000400445.3_Nonsense_Mutation_p.R203*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.R203*			Q8NFP9	NBEA_HUMAN	neurobeachin	203						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CAGCATGCTTCGAGGAGAAAG	0.408000													5	17					0	0	1	0	0
DBT	1629	broad.mit.edu	37	1	100684190	100684190	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:100684190C>T	ENST00000370132.3	-	5	560	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	DBT_ENST00000370131.3_Missense_Mutation_p.E183K	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	183					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		ACATTGTTTTCCATTGCCAGA	0.393000													29	92					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559336	140559336	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140559336C>T	ENST00000239444.2	+	1	1966	c.1721C>T	c.(1720-1722)aCc>aTc	p.T574I		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		574	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGCCCTGCACCGAGCTGGTG	0.701000													10	185					0	0	1	0	0
TTLL8	164714	broad.mit.edu	37	22	50469154	50469154	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:50469154C>T	ENST00000266182.6	-	12	1907	c.1908G>A	c.(1906-1908)cgG>cgA	p.R636R	TTLL8_ENST00000440475.1_Silent_p.R616R					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		GTCCCAAGTCCCGCTGGAGAG	0.706000													16	11					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181546919	181546919	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:181546919G>A	ENST00000526775.1	+	4	695	c.530G>A	c.(529-531)gGa>gAa	p.G177E	CACNA1E_ENST00000357570.5_Missense_Mutation_p.G128E|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G177E|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G177E|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G128E|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G177E	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	177					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCCACTGCAGGAACCCACTTC	0.577000													5	20					0	0	1	0	0
PVRL4	81607	broad.mit.edu	37	1	161047499	161047499	+	Silent	SNP	T	T	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:161047499T>G	ENST00000368012.3	-	3	776	c.474A>C	c.(472-474)gcA>gcC	p.A158A		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	158	Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCTCTTCTAGTGCTGGACCAG	0.637000													31	58					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20335338	20335338	+	Missense_Mutation	SNP	C	C	T	rs147629855	by1000genomes	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:20335338C>T	ENST00000302555.5	-	3	484	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	GP2_ENST00000341642.5_Intron|GP2_ENST00000381360.5_Intron|GP2_ENST00000381362.4_Missense_Mutation_p.R112Q			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	112						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGTCTGGCATCGGTGCACCTG	0.597000													32	68					0	0	1	0	0
PVRIG	79037	broad.mit.edu	37	7	99817763	99817763	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:99817763C>T	ENST00000317271.2	+	3	508	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	49						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGTTCAAGTTCGGATGGAGGC	0.647000													6	15					0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62463005	62463005	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:62463005C>T	ENST00000430451.2	+	1	465	c.268C>T	c.(268-270)Cat>Tat	p.H90Y	SYT16_ENST00000446982.2_Missense_Mutation_p.H90Y	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	90										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TGAAGTGGATCATTTCTCATG	0.398000													20	112					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147040868	147040868	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:147040868C>T	ENST00000265272.5	-	3	737	c.270G>A	c.(268-270)gaG>gaA	p.E90E	JAKMIP2_ENST00000507386.1_Silent_p.E90E|JAKMIP2_ENST00000333010.6_Silent_p.E48E	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	90						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATAAGGTTCTCCCTCACAG	0.557000													45	178					0	0	1	0	0
FBXW12	285231	broad.mit.edu	37	3	48423328	48423328	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:48423328G>A	ENST00000296438.5	+	9	1310	c.1124G>A	c.(1123-1125)cGa>cAa	p.R375Q	FBXW12_ENST00000468158.1_3'UTR|FBXW12_ENST00000445170.1_Missense_Mutation_p.R356Q|FBXW12_ENST00000436231.1_Missense_Mutation_p.R218Q|FBXW12_ENST00000415155.1_Missense_Mutation_p.R305Q	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	375										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGCTGCAACGATTTGAGGAC	0.473000													21	50					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62713308	62713308	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:62713308C>T	ENST00000371153.4	-	9	3097	c.2719G>A	c.(2719-2721)Gac>Aac	p.D907N	KANK4_ENST00000371150.1_Missense_Mutation_p.D263N|KANK4_ENST00000354381.3_Missense_Mutation_p.D279N|KANK4_ENST00000317477.4_Missense_Mutation_p.D45N	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	907								p.D907N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TCCTCCCTGTCGTGGCTGACT	0.622000													16	70					0	0	1	0	0
RGL3	57139	broad.mit.edu	37	19	11526640	11526640	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:11526640C>T	ENST00000380456.3	-	5	673	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	RGL3_ENST00000393423.3_Missense_Mutation_p.E204K	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	204					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GGCTCCTCTTCCTGCTCTCGC	0.562000													62	267					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41551013	41551013	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr21:41551013C>T	ENST00000400454.1	-	15	3265	c.2788G>A	c.(2788-2790)Gat>Aat	p.D930N		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	930	Fibronectin type-III 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGAGCAGAATCCCAGGAGTCT	0.433000													13	49					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064379	9064379	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:9064379G>A	ENST00000397910.4	-	3	23270	c.23067C>T	c.(23065-23067)tcC>tcT	p.S7689S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7691	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGACAGCGGGGAGGATGGAG	0.557000													16	59					0	0	1	0	0
PLBD2	196463	broad.mit.edu	37	12	113821969	113821969	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:113821969C>T	ENST00000280800.3	+	7	1048	c.1017C>T	c.(1015-1017)ccC>ccT	p.P339P	PLBD2_ENST00000545182.2_Silent_p.P339P	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	339					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ATGTGCGGCCCAGGGGCTGTG	0.617000													12	31					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32137076	32137076	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:32137076C>T	ENST00000312561.4	+	4	3601	c.3187C>T	c.(3187-3189)Cct>Tct	p.P1063S	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		AAAAGAGTTTCCTTATGGCAT	0.433000													25	107					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19420509	19420509	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:19420509G>A	ENST00000375267.2	-	95	13874	c.13871C>T	c.(13870-13872)tCc>tTc	p.S4624F	UBR4_ENST00000543981.1_Missense_Mutation_p.S288F|UBR4_ENST00000375226.2_Missense_Mutation_p.S4600F|UBR4_ENST00000375254.3_Missense_Mutation_p.S4624F|UBR4_ENST00000375217.2_Missense_Mutation_p.S4617F|UBR4_ENST00000429347.2_Missense_Mutation_p.S147F|UBR4_ENST00000375224.1_Missense_Mutation_p.S331F|UBR4_ENST00000467272.2_5'UTR			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4624					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTCTCCAAAGGAAAGGTACGG	0.458000													5	18					0	0	1	0	0
BTG1	694	broad.mit.edu	37	12	92537927	92537927	+	Missense_Mutation	SNP	A	A	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:92537927A>C	ENST00000256015.3	-	2	806	c.445T>G	c.(445-447)Tgt>Ggt	p.C149G		NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	149					cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				TCCTCCTTACAGCTGATTCGG	0.473000			T	MYC	BCLL						OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	61					0	0	1	0	0
GLYAT	10249	broad.mit.edu	37	11	58477509	58477509	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:58477509G>A	ENST00000344743.3	-	6	762	c.621C>T	c.(619-621)tgC>tgT	p.C207C	GLYAT_ENST00000529732.1_Silent_p.C207C	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	207					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CCAGGAGACAGCAGGTGGGAA	0.532000													30	83					0	0	1	0	0
KRTAP9-4	85280	broad.mit.edu	37	17	39406423	39406423	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:39406423C>T	ENST00000334109.2	+	1	485	c.451C>T	c.(451-453)Cct>Tct	p.P151S		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	151	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CTGCTGTCAGCCTTTTTGCTG	0.527000													29	131					0	0	1	0	0
TMEM154	201799	broad.mit.edu	37	4	153574062	153574062	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:153574062C>T	ENST00000304385.3	-	2	313	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	TMEM154_ENST00000504064.1_Missense_Mutation_p.E28K	NM_152680.2	NP_689893.1	Q6P9G4	TM154_HUMAN	transmembrane protein 154	28						integral to membrane				kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				CCTGAGTTTTCTAATTCCTCA	0.313000													8	15					0	0	1	0	0
TRIM28	10155	broad.mit.edu	37	19	59059032	59059032	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:59059032G>A	ENST00000253024.5	+	5	1080	c.791G>A	c.(790-792)gGg>gAg	p.G264E	TRIM28_ENST00000341753.6_Missense_Mutation_p.G182E	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	264	Leucine zipper alpha helical coiled-coil region.|RBCC domain.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		AAGCGCCTTGGGGACAAACAT	0.572000													19	48					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76525671	76525671	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:76525671C>T	ENST00000389840.5	-	22	3514	c.3390G>A	c.(3388-3390)atG>atA	p.M1130I	DNAH17_ENST00000585328.1_Missense_Mutation_p.M1127I					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCTTGACTTTCATCAGGTGCC	0.562000													28	126					0	0	1	0	0
CPA6	57094	broad.mit.edu	37	8	68346316	68346316	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:68346316G>A	ENST00000297770.4	-	9	1213	c.998C>T	c.(997-999)cCc>cTc	p.P333L	CPA6_ENST00000297769.4_Intron	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	333					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GTAAGAATAGGGATACAGTAA	0.408000													27	78					0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243303396	243303396	+	Missense_Mutation	SNP	A	A	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:243303396A>C	ENST00000366542.1	-	16	4124	c.4073T>G	c.(4072-4074)gTt>gGt	p.V1358G	CEP170_ENST00000468254.1_5'UTR|RP11-261C10.5_ENST00000439562.1_RNA|CEP170_ENST00000481987.1_Missense_Mutation_p.V94G|CEP170_ENST00000490813.1_Missense_Mutation_p.V67G|CEP170_ENST00000366543.1_Missense_Mutation_p.V1234G|CEP170_ENST00000366544.1_Missense_Mutation_p.V1260G	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1358	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTCATCAAAAACACGATCAAC	0.378000													55	39					0	0	1	0	0
IRX2	153572	broad.mit.edu	37	5	2748963	2748963	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:2748963G>A	ENST00000382611.6	-	3	1107	c.859C>T	c.(859-861)Ccg>Tcg	p.P287S	IRX2_ENST00000302057.5_Missense_Mutation_p.P287S|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	287						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CCGGTAAGCGGCGACGAGGTC	0.751000													9	16					0	0	1	0	0
SLC25A38	54977	broad.mit.edu	37	3	39431045	39431045	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:39431045C>T	ENST00000273158.4	+	2	506	c.129C>T	c.(127-129)ctC>ctT	p.L43L		NM_017875.2	NP_060345.2	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	43					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCTCTACCCTCCTTTTCCAAC	0.507000													22	58					0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180359867	180359867	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:180359867C>T	ENST00000273654.4	-	19	2659	c.2040G>A	c.(2038-2040)atG>atA	p.M680I	CCDC39_ENST00000442201.2_Missense_Mutation_p.M596I			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	596					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		p.M596I(1)|p.M680I(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTCGCTCTTCCATTGCTGTGT	0.343000													11	40					0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118159251	118159251	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:118159251G>A	ENST00000456015.2	+	2	130	c.130G>A	c.(130-132)Gag>Aag	p.E44K	SLC30A8_ENST00000519688.1_5'UTR|SLC30A8_ENST00000427715.2_5'UTR|SLC30A8_ENST00000521243.1_5'UTR	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	44					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GAGACCAGAGGAGCTGGAGTC	0.507000													24	67					0	0	1	0	0
FANCG	2189	broad.mit.edu	37	9	35079160	35079160	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:35079160G>A	ENST00000378643.3	-	2	654	c.163C>T	c.(163-165)Cat>Tat	p.H55Y		NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	55					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGCAGACTATGGAGGAGCCCT	0.567000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks					6	13					0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	367134	367134	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:367134C>T	ENST00000342640.4	-	7	886	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	THEG_ENST00000346878.2_Missense_Mutation_p.E258K	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	282					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCACTCTTCCAAGAGGGTG	0.587000													29	116					0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41712263	41712263	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:41712263C>T	ENST00000310054.4	+	9	1601	c.1385C>T	c.(1384-1386)tCc>tTc	p.S462F	CYP2S1_ENST00000542619.1_Missense_Mutation_p.S187F	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	462					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CAAGCCTTCTCCCTGGAGAGC	0.607000													23	141					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99640237	99640237	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:99640237G>A	ENST00000547776.2	-	13	2161	c.2162C>T	c.(2161-2163)tCa>tTa	p.S721L	ANKS1B_ENST00000329257.7_Missense_Mutation_p.S721L|ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_Missense_Mutation_p.S301L	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	721						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTTAGGCAATGACCTTATTCT	0.458000													21	50					0	0	1	0	0
LAMP3	27074	broad.mit.edu	37	3	182853661	182853661	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:182853661C>T	ENST00000265598.3	-	5	1216	c.961G>A	c.(961-963)Gga>Aga	p.G321R	LAMP3_ENST00000466939.1_Missense_Mutation_p.G297R	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	321					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TGTTTGATTCCTTGGTAAATT	0.522000													62	249					0	0	1	0	0
MAP6	4135	broad.mit.edu	37	11	75298246	75298246	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:75298246G>A	ENST00000304771.3	-	4	3050	c.2300C>T	c.(2299-2301)cCa>cTa	p.P767L	CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Missense_Mutation_p.P438L	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	767	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GTCCTTTGCTGGTACTGGCAC	0.522000													34	108					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34204861	34204861	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:34204861C>T	ENST00000373381.4	-	15	2424	c.2248G>A	c.(2248-2250)Ggc>Agc	p.G750S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	710	Sushi 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATGGAGCTGCCCAGCTGGAGG	0.577000													19	56					0	0	1	0	0
EDN3	1908	broad.mit.edu	37	20	57876598	57876598	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:57876598C>T	ENST00000311585.7	+	2	556	c.186C>T	c.(184-186)ggC>ggT	p.G62G	EDN3_ENST00000395654.3_Silent_p.G62G|EDN3_ENST00000337938.2_Silent_p.G62G|EDN3_ENST00000371028.2_Silent_p.G62G|EDN3_ENST00000371025.3_Silent_p.G62G	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	62					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CTGGCCCTGGCGAGGGGACTG	0.716000													10	54					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105438935	105438935	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:105438935G>A	ENST00000264122.4	-	10	1684	c.1363C>T	c.(1363-1365)Cgt>Tgt	p.R455C	CBLB_ENST00000394027.3_Missense_Mutation_p.R477C|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000403724.1_Missense_Mutation_p.R455C|CBLB_ENST00000405772.1_Missense_Mutation_p.R455C	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	455					cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GACTCCTCACGATCATCATCG	0.463000			Mis S		AML								9	29					0	0	1	0	0
GMPS	8833	broad.mit.edu	37	3	155632257	155632257	+	Silent	SNP	A	A	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:155632257A>T	ENST00000496455.1	+	8	1271	c.936A>T	c.(934-936)atA>atT	p.I312I	GMPS_ENST00000295920.7_Silent_p.I213I	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	312					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCCTACCAATATCAGATGAAG	0.353000			T	MLL	AML								18	72					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43749343	43749343	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:43749343G>A	ENST00000263801.3	-	12	1700	c.1448C>T	c.(1447-1449)tCa>tTa	p.S483L	TP53BP1_ENST00000450115.2_Missense_Mutation_p.S488L|TP53BP1_ENST00000382044.4_Missense_Mutation_p.S488L|TP53BP1_ENST00000382039.3_Missense_Mutation_p.S488L	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	483					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGTCAAAGATGAACTATGCAT	0.388000								Other conserved DNA damage response genes					7	27					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137207	40137207	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:40137207G>A	ENST00000278198.2	-	2	2599	c.636C>T	c.(634-636)atC>atT	p.I212I	LRRC4C_ENST00000527150.1_Silent_p.I212I|LRRC4C_ENST00000530763.1_Silent_p.I212I|LRRC4C_ENST00000528697.1_Silent_p.I212I			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	212					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGAGGTTAGGGATTTCCCGAA	0.458000													21	51					0	0	1	0	0
MAP9	79884	broad.mit.edu	37	4	156294386	156294386	+	Missense_Mutation	SNP	G	G	A	rs149700830		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:156294386G>A	ENST00000311277.4	-	4	646	c.383C>T	c.(382-384)tCt>tTt	p.S128F	MAP9_ENST00000379248.2_Missense_Mutation_p.S56F|MAP9_ENST00000515654.1_Missense_Mutation_p.S128F|AC097467.2_ENST00000596165.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	128					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TTCAGAGAAAGATTTTACAAC	0.338000													10	38					0	0	1	0	0
OR51I2	390064	broad.mit.edu	37	11	5475230	5475230	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:5475230C>T	ENST00000341449.2	+	1	593	c.512C>T	c.(511-513)tCc>tTc	p.S171F	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S171Y(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCTGCAGATCCAATGTTCTT	0.463000													15	72					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34042940	34042940	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:34042940G>A	ENST00000373381.4	-	49	7708	c.7532C>T	c.(7531-7533)cCc>cTc	p.P2511L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2513	Sushi 14.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTAGCCCTGGGGGTGCCGGGT	0.622000													24	83					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19483477	19483477	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:19483477G>A	ENST00000506372.1	-	12	2220	c.1709C>T	c.(1708-1710)tCc>tTc	p.S570F	CDH18_ENST00000274170.4_Silent_p.F605F|CDH18_ENST00000382275.1_Silent_p.F605F|CDH18_ENST00000507958.1_Silent_p.F605F|CDH18_ENST00000502796.1_Missense_Mutation_p.S569F			Q13634	CAD18_HUMAN	cadherin 18, type 2	0	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCGAGGACAGGAAGGCTTCTG	0.522000													9	25					0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180209	124180209	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:124180209C>T	ENST00000357821.2	-	1	524	c.454G>A	c.(454-456)Ggc>Agc	p.G152S		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GAGAGAAAGCCCAAGAAGAAG	0.468000													11	25					0	0	1	0	0
NDUFB5	4711	broad.mit.edu	37	3	179333833	179333833	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:179333833C>T	ENST00000259037.3	+	3	390	c.276C>T	c.(274-276)ttC>ttT	p.F92F	NDUFB5_ENST00000473500.1_Intron|NDUFB5_ENST00000472629.1_Silent_p.F80F|NDUFB5_ENST00000493866.1_Intron	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	92					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	TGAATGTATTCATTGGTAAGT	0.323000													15	30					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33927862	33927862	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:33927862C>T	ENST00000389232.4	+	26	3293	c.3223C>T	c.(3223-3225)Cgg>Tgg	p.R1075W	RYR3_ENST00000415757.3_Missense_Mutation_p.R1075W	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1075	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCGATTTTTCCGGGTAGAGCG	0.512000													8	26					0	0	1	0	0
CTSL	1514	broad.mit.edu	37	9	90343221	90343221	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:90343221G>A	ENST00000343150.5	+	4	1196	c.306G>A	c.(304-306)aaG>aaA	p.K102K	CTSL_ENST00000495822.1_Intron|CTSL_ENST00000342020.5_Silent_p.K102K|CTSL_ENST00000340342.6_Silent_p.K102K					cathepsin L																		AGCCCAGGAAGGGGAAAGTGT	0.453000													13	60					0	0	1	0	0
PLEKHA8	84725	broad.mit.edu	37	7	30118271	30118271	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:30118271C>T	ENST00000449726.1	+	14	1778	c.1428C>T	c.(1426-1428)gaC>gaT	p.D476D	PLEKHA8_ENST00000396259.1_Intron|PLEKHA8_ENST00000396257.2_Intron|PLEKHA8_ENST00000258679.7_Intron	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	476					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						AGGAAGGTGACCACCAGAAAG	0.478000													22	59					0	0	1	0	0
ZNF812	729648	broad.mit.edu	37	19	9801820	9801820	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:9801820C>T	ENST00000457674.2	-	5	877	c.359G>A	c.(358-360)gGa>gAa	p.G120E	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	120	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GATGTCTTTTCCATAACAATT	0.413000													10	54					0	0	1	0	0
SLC7A7	9056	broad.mit.edu	37	14	23282240	23282240	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:23282240G>A	ENST00000397532.3	-	2	893	c.368C>T	c.(367-369)tCc>tTc	p.S123F	SLC7A7_ENST00000285850.7_Missense_Mutation_p.S123F|SLC7A7_ENST00000554517.1_Intron|SLC7A7_ENST00000555702.1_Missense_Mutation_p.S123F|SLC7A7_ENST00000397528.4_Missense_Mutation_p.S123F|SLC7A7_ENST00000397529.2_Missense_Mutation_p.S123F			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	123					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		GATGAGCAGGGAGGTCCAGAG	0.537000													37	106					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10478868	10478868	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:10478868G>A	ENST00000525621.1	-	5	809	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	TYK2_ENST00000524462.1_Intron|TYK2_ENST00000529370.1_Missense_Mutation_p.R110W|TYK2_ENST00000264818.6_Missense_Mutation_p.R110W	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	110	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TGCCAGTTCCGGAAATAAAAC	0.587000													15	42					0	0	1	0	0
TCP10L2	401285	broad.mit.edu	37	6	167591975	167591975	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:167591975C>T	ENST00000366832.2	+	5	733	c.602C>T	c.(601-603)cCc>cTc	p.P201L		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	201										endometrium(1)|kidney(2)|lung(3)	6						AGTCCAGCACCCACTGGAAGG	0.517000													7	75					0	0	1	0	0
CASP4	837	broad.mit.edu	37	11	104820330	104820330	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:104820330G>A	ENST00000444739.2	-	5	1631	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	CASP4_ENST00000393150.3_Missense_Mutation_p.R185C	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	241					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		AGGCAGTTGCGGTTGTTGAAT	0.478000													21	60					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468778	56468778	+	Silent	SNP	T	T	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:56468778T>A	ENST00000288221.6	-	2	513	c.258A>T	c.(256-258)acA>acT	p.T86T		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	86						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CAGCTCGATTTGTAGCCCTTC	0.502000													36	117					0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51128505	51128505	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:51128505C>T	ENST00000338916.4	-	7	2254	c.1621G>A	c.(1621-1623)Gct>Act	p.A541T	SYT3_ENST00000600079.1_Missense_Mutation_p.A541T|SYT3_ENST00000593901.1_Missense_Mutation_p.A541T|SYT3_ENST00000544769.1_Missense_Mutation_p.A541T	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	541						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GGGTCGGCAGCGTCGGGGCCC	0.692000													4	7					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117609888	117609888	+	Missense_Mutation	SNP	C	C	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:117609888C>G	ENST00000368508.3	-	43	7009	c.6811G>C	c.(6811-6813)Ggg>Cgg	p.G2271R	ROS1_ENST00000368507.3_Missense_Mutation_p.G2265R	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2271					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TAGTTTAACCCTTCTCGGTTC	0.408000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								16	33					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138711	126138711	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:126138711G>A	ENST00000299308.3	+	9	2700	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K	TMEM132B_ENST00000535886.1_Missense_Mutation_p.E410K	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	898						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AACGGACTTGGAGATTGGCAT	0.512000													25	55					0	0	1	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389858	150389858	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:150389858G>A	ENST00000223293.5	+	3	578	c.484G>A	c.(484-486)Gac>Aac	p.D162N		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	162						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTACATGCACGACTCAGATAA	0.502000													50	43					0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38509565	38509565	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:38509565G>A	ENST00000332509.3	-	15	2314	c.2131C>T	c.(2131-2133)Ccc>Tcc	p.P711S	PLA2G6_ENST00000335539.3_Missense_Mutation_p.P657S|PLA2G6_ENST00000402064.1_Missense_Mutation_p.P657S	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	711					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GGGTTGCTGGGACGGAAGACA	0.602000													24	146					0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61460452	61460452	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:61460452G>A	ENST00000398019.2	+	4	602	c.277G>A	c.(277-279)Gat>Aat	p.D93N	SERPINB7_ENST00000336429.2_Missense_Mutation_p.D93N|SERPINB7_ENST00000540675.1_Missense_Mutation_p.D76N|SERPINB7_ENST00000546027.1_Missense_Mutation_p.D93N	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	93					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				ATCCCACAAGGATTATGATCT	0.348000													5	41					0	0	1	0	0
SLC25A23	79085	broad.mit.edu	37	19	6454085	6454085	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:6454085G>A	ENST00000301454.4	-	7	916	c.810C>T	c.(808-810)atC>atT	p.I270I	SLC25A23_ENST00000334510.5_Silent_p.I270I|SLC25A23_ENST00000414491.2_Silent_p.I87I	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	270					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						GCTGCCCCAGGATGGCCCTCT	0.582000													8	23					0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155931901	155931901	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:155931901G>A	ENST00000368316.1	-	14	1600	c.1130C>T	c.(1129-1131)tCc>tTc	p.S377F	ARHGEF2_ENST00000361247.4_Missense_Mutation_p.S405F|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.S406F|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.S377F|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.S404F			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	405	DH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTCACCGTGGGAATGCTGCAG	0.642000													24	126					0	0	1	0	0
C12orf36	283422	broad.mit.edu	37	12	13526231	13526231	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:13526231C>T	ENST00000318426.2	-	3	541	c.324G>A	c.(322-324)aaG>aaA	p.K108K	C12orf36_ENST00000527705.2_Silent_p.K108K					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		TCTGTCCACTCTTCAGCCTCT	0.488000													32	125					0	0	1	0	0
OR5K3	403277	broad.mit.edu	37	3	98109721	98109721	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:98109721C>T	ENST00000383695.1	+	1	212	c.212C>T	c.(211-213)tCc>tTc	p.S71F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						CTGATGGATTCCTGCTGTTCC	0.393000													78	220					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19351433	19351433	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:19351433G>A	ENST00000252575.5	+	12	3474	c.3431G>A	c.(3430-3432)tGg>tAg	p.W1144*	NCAN_ENST00000538881.1_Nonsense_Mutation_p.W595*	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1144	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GAAAACACGTGGATCGGCCTG	0.642000													24	69					0	0	1	0	0
TRAV34	28648	broad.mit.edu	37	14	22675459	22675459	+	RNA	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:22675459G>A	ENST00000390461.2	+	0	42																											TACTCCTAGGGATATTGGGGT	0.453000													14	45					0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52771866	52771866	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:52771866G>A	ENST00000257951.3	-	9	1821	c.1755C>T	c.(1753-1755)tcC>tcT	p.S585S		NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	585	Tail.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCGGACGCTGGAGCTGCGGC	0.687000													6	16					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72057460	72057460	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:72057460C>T	ENST00000355327.3	+	16	2825	c.2691C>T	c.(2689-2691)ttC>ttT	p.F897F	THSD4_ENST00000261862.6_Silent_p.F897F|THSD4_ENST00000357769.4_Silent_p.F537F|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	897	TSP type-1 5.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AATGTTCTTTCCTGGAGAAAC	0.522000													14	51					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32041498	32041498	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:32041498C>T	ENST00000375244.3	-	12	4808	c.4607G>A	c.(4606-4608)aGa>aAa	p.R1536K	TNXB_ENST00000375247.2_Missense_Mutation_p.R1536K			P22105	TENX_HUMAN	tenascin XB	1623	Fibronectin type-III 7.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTTATATTTTCTCTCAGGCTC	0.562000													5	15					0	0	1	0	0
KAZALD1	81621	broad.mit.edu	37	10	102824068	102824068	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:102824068G>A	ENST00000370200.5	+	3	888	c.562G>A	c.(562-564)Gat>Aat	p.D188N		NM_030929.4	NP_112191.2	Q96I82	KAZD1_HUMAN	Kazal-type serine peptidase inhibitor domain 1	188	Ig-like C2-type.				cell differentiation|multicellular organismal development|ossification|regulation of cell growth		insulin-like growth factor binding			endometrium(1)|ovary(1)|prostate(2)	4				Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		GACAGGGCAGGATGTGATCTT	0.567000													11	27					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197183810	197183810	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:197183810C>T	ENST00000260983.2	-	9	1986	c.1804G>A	c.(1804-1806)Gat>Aat	p.D602N	HECW2_ENST00000409111.1_Missense_Mutation_p.D246N	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	602					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GAGCCCTGATCGAGAGACTCG	0.587000													7	25					0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55927718	55927718	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:55927718G>A	ENST00000313447.1	-	1	75	c.76C>T	c.(76-78)Ccc>Tcc	p.P26S		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CCAAAAAGGGGAATCTGCAGC	0.443000													20	75					0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29853296	29853296	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:29853296C>T	ENST00000357402.5	+	10	1635	c.1497C>T	c.(1495-1497)tcC>tcT	p.S499S	MVP_ENST00000395353.1_Silent_p.S499S|MVP_ENST00000452209.2_3'UTR	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	499					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CAGTGTTGTCCCTCTCAGCTG	0.647000													9	33					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124358571	124358571	+	Missense_Mutation	SNP	C	C	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:124358571C>A	ENST00000338354.3	+	26	3344	c.3238C>A	c.(3238-3240)Cac>Aac	p.H1080N	DMBT1_ENST00000344338.3_Missense_Mutation_p.H1070N|DMBT1_ENST00000368956.2_Missense_Mutation_p.H581N|DMBT1_ENST00000330163.4_Missense_Mutation_p.H581N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.H1070N|DMBT1_ENST00000368909.3_Missense_Mutation_p.H1080N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1080	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTGGCTCTCCCACAACTGTGG	0.567000													25	104					7.92952e-12	7.99136e-12	1	1	0
POLE	5426	broad.mit.edu	37	12	133233743	133233743	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:133233743G>A	ENST00000320574.5	-	29	3604	c.3561C>T	c.(3559-3561)ttC>ttT	p.F1187F	POLE_ENST00000535270.1_Silent_p.F1160F	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1187					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CCTCCAGGGTGAAGAGCTCAC	0.567000								DNA polymerases (catalytic subunits)					16	85					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65249232	65249232	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:65249232C>T	ENST00000389722.3	-	19	4095	c.4042G>A	c.(4042-4044)Gcc>Acc	p.A1348T	SPTB_ENST00000542895.1_Missense_Mutation_p.A1348T|SPTB_ENST00000556626.1_Missense_Mutation_p.A1348T|SPTB_ENST00000389720.3_Missense_Mutation_p.A1348T|SPTB_ENST00000389721.5_Missense_Mutation_p.A1348T	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1348					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GACACCAGGGCTGTAAACTGG	0.607000													28	175					0	0	1	0	0
HOMER1	9456	broad.mit.edu	37	5	78742950	78742950	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:78742950C>T	ENST00000334082.6	-	4	1755	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000282260.6_Intron|HOMER1_ENST00000508576.1_Missense_Mutation_p.E105K	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	105	WH1.				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		TCTTTAAATTCCTGAAACTTT	0.338000													7	32					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996029	140996029	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:140996029C>T	ENST00000285879.4	+	4	3125	c.2839C>T	c.(2839-2841)Cct>Tct	p.P947S	MAGEC1_ENST00000406005.2_Missense_Mutation_p.P14S	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	947	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGGCTACTTTCCTGTGATCTT	0.463000										HNSCC(15;0.026)			57	67					0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94933529	94933529	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:94933529G>A	ENST00000337425.5	-	3	947	c.873C>T	c.(871-873)ctC>ctT	p.L291L	SERPINA9_ENST00000546329.1_Silent_p.L255L|SERPINA9_ENST00000298845.7_Silent_p.L191L|SERPINA9_ENST00000424550.2_Silent_p.L142L|SERPINA9_ENST00000380365.3_Silent_p.L273L|SERPINA9_ENST00000448305.2_Silent_p.L193L	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	273					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CCTTGCTAGGGAGGACAAAGA	0.522000													18	52					0	0	1	0	0
VOPP1	81552	broad.mit.edu	37	7	55560102	55560102	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:55560102C>T	ENST00000285279.5	-	4	401	c.201G>A	c.(199-201)ctG>ctA	p.L67L	VOPP1_ENST00000427700.1_Silent_p.L65L|VOPP1_ENST00000453256.1_5'UTR|VOPP1_ENST00000428648.1_5'UTR|VOPP1_ENST00000433959.1_Silent_p.L58L|VOPP1_ENST00000545390.1_Silent_p.L64L|VOPP1_ENST00000418904.1_Silent_p.L50L|VOPP1_ENST00000428097.1_5'UTR|VOPP1_ENST00000454227.1_Silent_p.L4L	NM_030796.3	NP_110423.3	Q96AW1	VOPP1_HUMAN	vesicular, overexpressed in cancer, prosurvival protein 1	67					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic vesicle membrane|endosome|integral to organelle membrane	signal transducer activity			endometrium(1)|lung(4)	5						CGCCCATCATCAGAAGGAACC	0.622000													8	15					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161113261	161113261	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:161113261G>A	ENST00000523217.1	+	2	306	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	GABRA6_ENST00000274545.5_Missense_Mutation_p.E22K|GABRA6_ENST00000522269.1_3'UTR	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	22					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGGGAAACTCGAAGTTGAAGG	0.478000										TCGA Ovarian(5;0.080)			20	46					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24578687	24578687	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:24578687C>T	ENST00000319715.4	+	15	2245	c.1813C>T	c.(1813-1815)Cct>Tct	p.P605S	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.P605S	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	605					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TCCAGGGTTTCCTCCAGCTCC	0.537000													70	303					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38627279	38627279	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:38627279C>T	ENST00000413689.1	-	16	2883	c.2690G>A	c.(2689-2691)gGa>gAa	p.G897E	SCN5A_ENST00000455624.2_Missense_Mutation_p.G897E|SCN5A_ENST00000450102.2_Missense_Mutation_p.G897E|SCN5A_ENST00000449557.2_Missense_Mutation_p.G897E|SCN5A_ENST00000443581.1_Missense_Mutation_p.G897E|SCN5A_ENST00000425664.1_Missense_Mutation_p.G897E|SCN5A_ENST00000423572.2_Missense_Mutation_p.G897E|SCN5A_ENST00000414099.2_Missense_Mutation_p.G897E|SCN5A_ENST00000333535.4_Missense_Mutation_p.G897E|SCN5A_ENST00000451551.2_Missense_Mutation_p.G897E	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	897					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GATCCACTCTCCACAGAGGAT	0.542000													30	73					0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36597596	36597596	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:36597596C>T	ENST00000299440.5	+	2	2854	c.2742C>T	c.(2740-2742)ttC>ttT	p.F914F		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	914					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AGTACAGTTTCAATTCACAGC	0.453000									Familial Hemophagocytic Lymphohistiocytosis				14	48					0	0	1	0	0
FBXO28	23219	broad.mit.edu	37	1	224318205	224318205	+	Missense_Mutation	SNP	G	G	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:224318205G>T	ENST00000366862.5	+	2	342	c.299G>T	c.(298-300)aGa>aTa	p.R100I	FBXO28_ENST00000424254.2_Missense_Mutation_p.R100I	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	100	F-box.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		GTCTGCCAGAGAATGTTGAAT	0.373000													56	75					2.73361e-28	2.76322e-28	1	1	0
CPA1	1357	broad.mit.edu	37	7	130025044	130025044	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:130025044C>T	ENST00000011292.3	+	8	995	c.845C>T	c.(844-846)tCc>tTc	p.S282F	CPA1_ENST00000484324.1_Missense_Mutation_p.S194F	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	282					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					TTTGCCAATTCCGAAGTGGAG	0.562000													23	98					0	0	1	0	0
OVCH2	341277	broad.mit.edu	37	11	7725274	7725274	+	RNA	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:7725274C>T	ENST00000454689.1	-	0	260				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		CCGCCGTGATCACCCACTGTG	0.453000													4	18					0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	376689	376689	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:376689C>T	ENST00000329962.6	+	14	1566	c.1566C>T	c.(1564-1566)ccC>ccT	p.P522P		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	522	Pro-rich.					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCAGCCGCCCCCAAAGGTGT	0.776000													3	3					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10307662	10307662	+	Silent	SNP	T	T	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:10307662T>C	ENST00000403437.2	-	22	2767	c.2673A>G	c.(2671-2673)caA>caG	p.Q891Q	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	891					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GAACCTGGAGTTGCAGGTCAT	0.383000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				15	35					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530097	140530097	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140530097G>A	ENST00000231136.1	+	1	259	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	PCDHB6_ENST00000543635.1_5'UTR	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		87	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTGCTAAATGAAAAACTGGA	0.517000													26	90					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10430069	10430069	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:10430069C>T	ENST00000397077.1	-	8	1374	c.799G>A	c.(799-801)Ggc>Agc	p.G267S	ATP2B2_ENST00000343816.4_Missense_Mutation_p.G267S|ATP2B2_ENST00000352432.4_Missense_Mutation_p.G267S|ATP2B2_ENST00000360273.2_Missense_Mutation_p.G267S|ATP2B2_ENST00000383800.4_Missense_Mutation_p.G267S			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	267					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGTCCTGAGCCCTCCATCACG	0.522000													32	95					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46795729	46795729	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:46795729C>T	ENST00000262738.3	-	10	5296	c.5297G>A	c.(5296-5298)gGg>gAg	p.G1766E		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1766	Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CACCCGCAACCCGGACAGCAT	0.582000													27	57					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153896276	153896276	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:153896276C>T	ENST00000511601.1	+	12	2021	c.1833C>T	c.(1831-1833)gcC>gcT	p.A611A	FHDC1_ENST00000260008.3_Silent_p.A611A			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	611					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AGGAGGAGGCCCCCAACCCAC	0.682000													41	185					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151962239	151962239	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:151962239C>T	ENST00000355193.2	-	8	1286	c.1068G>A	c.(1066-1068)caG>caA	p.Q356Q	KMT2C_ENST00000262189.6_Silent_p.Q356Q					lysine (K)-specific methyltransferase 2C																		TACAAAAGAACTGATCTAAGA	0.418000													8	331					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100200287	100200287	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:100200287C>T	ENST00000547776.2	-	4	563	c.564G>A	c.(562-564)atG>atA	p.M188I	ANKS1B_ENST00000329257.7_Missense_Mutation_p.M188I|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	188						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TGTTGCAGCTCATTAAGTTAG	0.512000													8	37					0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47583536	47583536	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:47583536C>T	ENST00000334194.3	+	12	1451	c.1448C>T	c.(1447-1449)cCc>cTc	p.P483L	CYP4Z1_ENST00000471598.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	483						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TCAAGGCCTCCCCAGCCTGTT	0.438000													15	32					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6655519	6655519	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:6655519C>T	ENST00000299441.3	-	3	2227	c.1816G>A	c.(1816-1818)Gat>Aat	p.D606N	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	606	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCCACTATCCGCGTCTGTG	0.572000													17	57					0	0	1	0	0
IGHA2	3494	broad.mit.edu	37	14	106054550	106054550	+	RNA	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:106054550C>T	ENST00000390539.2	-	0	182																											TGTACAGGTCCCCGGAGGCAT	0.622000													23	59					0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39914447	39914447	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:39914447C>T	ENST00000425673.1	+	17	2912	c.2587C>T	c.(2587-2589)Ccc>Tcc	p.P863S	PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.P833S|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.P892S			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	892					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGAGTCTGTCCCCCTGGGTCC	0.567000													19	68					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151107868	151107868	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:151107868C>T	ENST00000474524.1	+	36	5486	c.5448C>T	c.(5446-5448)ctC>ctT	p.L1816L	MED12L_ENST00000273432.4_Silent_p.L1676L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1816					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTTACAACCTCGTGGGCCAGC	0.498000													41	187					0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777236	123777236	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:123777236G>A	ENST00000321355.2	+	1	128	c.98G>A	c.(97-99)gGa>gAa	p.G33E		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		CTCTTCTTAGGAATTTACACA	0.423000													20	60					0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124036432	124036432	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:124036432G>A	ENST00000368994.2	+	3	399	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	BTBD16_ENST00000260723.4_Missense_Mutation_p.E49K			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	49										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				AGACTTTGAGGAAGCTTTGAG	0.557000													14	45					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	624595	624595	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:624595C>T	ENST00000358353.3	-	3	545	c.223G>A	c.(223-225)Gga>Aga	p.G75R	CDHR5_ENST00000529337.1_5'UTR|CDHR5_ENST00000397542.2_Missense_Mutation_p.G75R|CDHR5_ENST00000349570.7_Missense_Mutation_p.G75R			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	75	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						AGCTGGTTTCCCTGGATCCGA	0.627000													16	70					0	0	1	0	0
GDF5	8200	broad.mit.edu	37	20	34022144	34022144	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:34022144C>T	ENST00000374372.1	-	4	1572	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	GDF5_ENST00000374369.3_Missense_Mutation_p.E357K|GDF5OS_ENST00000374375.1_Missense_Mutation_p.S63L			P43026	GDF5_HUMAN	growth differentiation factor 5	357					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GCCTTAATCTCATTAAAGAAC	0.632000													68	93					0	0	1	0	0
ATAD3B	83858	broad.mit.edu	37	1	1417621	1417621	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:1417621C>T	ENST00000308647.7	+	6	734	c.618C>T	c.(616-618)atC>atT	p.I206I	ATAD3B_ENST00000378736.2_3'UTR|ATAD3B_ENST00000378741.3_Silent_p.I38I	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	206							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ATGCAGACATCATCCGCGAGC	0.672000													10	40					0	0	1	0	0
ATOH8	84913	broad.mit.edu	37	2	85981884	85981884	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:85981884C>T	ENST00000306279.3	+	1	868	c.572C>T	c.(571-573)tCc>tTc	p.S191F	ATOH8_ENST00000463422.1_3'UTR	NM_032827.6	NP_116216.2	Q96SQ7	ATOH8_HUMAN	atonal homolog 8 (Drosophila)	191					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGGGAAAGTTCCTACTCGTCA	0.682000													18	55					0	0	1	0	0
LOC101926911	101926911	broad.mit.edu	37	15	91578389	91578389	+	RNA	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:91578389C>T	ENST00000557804.1	+	0	707																											CATCTTCCTTCCACGTCCCTC	0.577000													5	15					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25976476	25976476	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:25976476G>A	ENST00000435504.4	-	11	1362	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*	ASXL2_ENST00000336112.4_Nonsense_Mutation_p.R329*|ASXL2_ENST00000272341.4_Nonsense_Mutation_p.R97*|ASXL2_ENST00000404843.1_Nonsense_Mutation_p.R97*			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	p.R97*(1)|p.R357*(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTCTTGTCGAATTCTCACC	0.358000													29	94					0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62550915	62550915	+	Nonsense_Mutation	SNP	A	A	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:62550915A>T	ENST00000541428.1	-	11	871	c.711T>A	c.(709-711)taT>taA	p.Y237*	ASPH_ENST00000518068.1_Nonsense_Mutation_p.Y223*|ASPH_ENST00000356457.5_Nonsense_Mutation_p.Y266*|ASPH_ENST00000523897.1_5'UTR|ASPH_ENST00000445642.3_Nonsense_Mutation_p.Y252*|ASPH_ENST00000522919.1_Nonsense_Mutation_p.Y79*|ASPH_ENST00000517903.1_Nonsense_Mutation_p.Y251*|ASPH_ENST00000517847.2_Nonsense_Mutation_p.Y252*|ASPH_ENST00000379454.4_Nonsense_Mutation_p.Y266*|ASPH_ENST00000522835.1_Nonsense_Mutation_p.Y209*	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	266	Glu-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CTAGAGGTTCATATACTGCTA	0.338000													15	35					0	0	1	0	0
MROH1	727957	broad.mit.edu	37	8	145235383	145235383	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:145235383G>A	ENST00000528919.1	+	6	640	c.519G>A	c.(517-519)ctG>ctA	p.L173L	MROH1_ENST00000326134.5_Silent_p.L173L|MROH1_ENST00000534366.1_Silent_p.L173L|MROH1_ENST00000423230.2_Silent_p.L173L|MROH1_ENST00000398656.4_Silent_p.L173L	NM_032450.2	NP_115826.2			maestro heat-like repeat family member 1																		TGCCCGTGCTGGGCGTGGCCA	0.657000													31	66					0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	237052584	237052584	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:237052584G>A	ENST00000366577.5	+	28	3349	c.2955G>A	c.(2953-2955)cgG>cgA	p.R985R	MTR_ENST00000535889.1_Silent_p.R934R	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	985	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GGCAGCTCCGGGGCAAGTACC	0.483000													15	125					0	0	1	0	0
TWF1	5756	broad.mit.edu	37	12	44193227	44193227	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:44193227C>T	ENST00000395510.2	-	5	586	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	TWF1_ENST00000325127.4_Missense_Mutation_p.E187K|TWF1_ENST00000548315.1_Missense_Mutation_p.E153K|TWF1_ENST00000552521.1_Missense_Mutation_p.E55K	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	153						actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		TGTCGTAGTTCTTCCTCAGCT	0.338000													3	11					0	0	1	0	0
RTP3	83597	broad.mit.edu	37	3	46539575	46539575	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:46539575G>A	ENST00000296142.3	+	1	595	c.23G>A	c.(22-24)tGg>tAg	p.W8*		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	8					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		ACAGAAGTGTGGAAGCAAATG	0.587000													17	74					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22927886	22927886	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:22927886C>T	ENST00000166244.3	+	16	2895	c.2823C>T	c.(2821-2823)tcC>tcT	p.S941S		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	941	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGCTGGACTCCATCCGCATGG	0.687000													22	86					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141946119	141946119	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:141946119C>T	ENST00000389484.3	-	7	1855	c.884G>A	c.(883-885)cGa>cAa	p.R295Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	295					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATAGAGATTTCGAGTGAGCCA	0.408000										TSP Lung(27;0.18)			10	22					0	0	1	0	0
CYP4V2	285440	broad.mit.edu	37	4	187122362	187122362	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:187122362G>A	ENST00000378802.4	+	7	1157	c.853G>A	c.(853-855)Gat>Aat	p.D285N		NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	285					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		CTGTAGAGGTGATGGCAGGGG	0.463000													12	41					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56026099	56026099	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:56026099G>A	ENST00000288221.6	-	11	2496	c.2241C>T	c.(2239-2241)atC>atT	p.I747I		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	747						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCAGTTCTGCGATCTTCTTGT	0.498000													21	129					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	107823014	107823014	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr13:107823014G>A	ENST00000375915.2	-	3	1346	c.1208C>T	c.(1207-1209)tCg>tTg	p.S403L		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	403						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CACTGTGAGCGATGTCCTGTG	0.478000													7	30					0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43927066	43927066	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:43927066C>T	ENST00000537548.1	-	8	1414	c.1170G>A	c.(1168-1170)tcG>tcA	p.S390S	MATN4_ENST00000372754.1_Silent_p.S431S|MATN4_ENST00000353917.5_Silent_p.S308S|MATN4_ENST00000372753.1_Silent_p.S241S|MATN4_ENST00000372751.4_Silent_p.S241S|MATN4_ENST00000342716.4_Silent_p.S390S|MATN4_ENST00000360607.5_Silent_p.S349S|MATN4_ENST00000372756.1_Silent_p.S390S			O95460	MATN4_HUMAN	matrilin 4	431	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GCACGCGGCTCGAGAACTGCA	0.632000													18	81					0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194062946	194062946	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:194062946C>T	ENST00000323830.3	-	2	575	c.486G>A	c.(484-486)agG>agA	p.R162R	CPN2_ENST00000429275.1_Silent_p.R162R	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	162					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GGAAGAGCCTCCTGGGCAGGG	0.642000													21	50					0	0	1	0	0
SLC26A6	65010	broad.mit.edu	37	3	48667522	48667522	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:48667522G>A	ENST00000358747.6	-	11	1582	c.1332C>T	c.(1330-1332)tcC>tcT	p.S444S	SLC26A6_ENST00000383733.3_Silent_p.S465S|SLC26A6_ENST00000455886.2_Silent_p.S429S|SLC26A6_ENST00000420764.2_Silent_p.S465S|SLC26A6_ENST00000337000.8_Silent_p.S358S|SLC26A6_ENST00000395550.2_Silent_p.S465S	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		CCTTCCAGAGGGAGCGCATGT	0.667000													16	57					0	0	1	0	0
SOCS7	30837	broad.mit.edu	37	17	36551576	36551576	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:36551576C>T	ENST00000577233.1	+	8	1504	c.1504C>T	c.(1504-1506)Cct>Tct	p.P502S	SOCS7_ENST00000331159.5_Missense_Mutation_p.P468S	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	502	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					GCCACCAACTCCTGTCCAGCT	0.468000													13	38					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168096932	168096932	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:168096932C>T	ENST00000519560.1	-	35	4611	c.4192G>A	c.(4192-4194)Gga>Aga	p.G1398R	SLIT3_ENST00000404867.3_Missense_Mutation_p.G1398R|SLIT3_ENST00000332966.8_Missense_Mutation_p.G1405R	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1398	EGF-like 8.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAGTCCCCTCCATAGCCCTCG	0.542000													8	50					0	0	1	0	0
SLC39A4	55630	broad.mit.edu	37	8	145641270	145641270	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:145641270G>A	ENST00000276833.5	-	1	626	c.323C>T	c.(322-324)cCc>cTc	p.P108L	SLC39A4_ENST00000301305.3_Missense_Mutation_p.P133L	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	133						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CAGGGCCTTGGGGCTCTCGAG	0.701000													8	18					0	0	1	0	0
CLEC10A	10462	broad.mit.edu	37	17	6979026	6979026	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:6979026G>A	ENST00000576617.1	-	7	887	c.618C>T	c.(616-618)ttC>ttT	p.F206F	CLEC10A_ENST00000254868.4_Intron|CLEC10A_ENST00000416562.2_Intron|CLEC10A_ENST00000571664.1_Intron			Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	0	C-type lectin.				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CATGTCTTAGGAACTGAGTAC	0.537000													12	47					0	0	1	0	0
CDCA4	55038	broad.mit.edu	37	14	105477976	105477976	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:105477976G>A	ENST00000336219.3	-	2	446	c.291C>T	c.(289-291)tcC>tcT	p.S97S	CDCA4_ENST00000392590.3_Silent_p.S97S	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	97						nucleus				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		GGATCTCCGTGGAGACCAAGC	0.667000													13	47					0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182414409	182414409	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:182414409G>A	ENST00000410087.3	-	6	947	c.847C>T	c.(847-849)Ctt>Ttt	p.L283F	CERKL_ENST00000374969.2_Missense_Mutation_p.L170F|CERKL_ENST00000374970.2_Missense_Mutation_p.L214F|CERKL_ENST00000339098.5_Missense_Mutation_p.L309F|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.L265F	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	309	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ACTCCATGAAGAGAATGTGCC	0.323000													12	54					0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85457714	85457714	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:85457714G>A	ENST00000369663.5	-	5	1200	c.863C>T	c.(862-864)cCa>cTa	p.P288L	TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_Missense_Mutation_p.P130L	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	288					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CTCCCCGGATGGAACAGGCTT	0.448000													14	23					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77885269	77885269	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:77885269G>A	ENST00000354212.4	-	10	2291	c.2038C>T	c.(2038-2040)Cat>Tat	p.H680Y	MAGI2_ENST00000522391.1_Missense_Mutation_p.H680Y|MAGI2_ENST00000535697.1_Missense_Mutation_p.H517Y|MAGI2_ENST00000419488.1_Missense_Mutation_p.H680Y|MAGI2_ENST00000536571.1_Missense_Mutation_p.H512Y	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	680	PDZ 3.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CCTCCTCGATGGATAATCAAA	0.368000													13	9					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906490	13906490	+	Silent	SNP	G	G	A	rs142203984		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:13906490G>A	ENST00000279593.3	-	3	980	c.771C>T	c.(769-771)atC>atT	p.I257I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	257					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.I257I(2)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GACTGGGCACGATCCACGTGT	0.532000													15	50					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42719114	42719114	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:42719114C>T	ENST00000230882.4	+	10	1695	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F	GHR_ENST00000357703.3_Missense_Mutation_p.S480F|GHR_ENST00000537449.1_Missense_Mutation_p.S315F	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	502					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GTGGTCCTTTCCCCGGGCCAA	0.488000													13	47					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179424820	179424820	+	Missense_Mutation	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:179424820C>T	ENST00000589042.1	-	326	86263	c.86039G>A	c.(86038-86040)gGg>gAg	p.G28680E	TTN_ENST00000342175.6_Missense_Mutation_p.G19807E|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G26112E|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G19740E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G27039E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G19615E|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27039							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATCGGGGCCCCACCATCAAA	0.438000													15	47					0	0	1	0	0
DDX1	1653	broad.mit.edu	37	2	15761225	15761225	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:15761225G>A	ENST00000381341.2	+	19	1821	c.1432G>A	c.(1432-1434)Ggt>Agt	p.G478S	DDX1_ENST00000233084.3_Missense_Mutation_p.G478S			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	478	Necessary for interaction with RELA.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		CACAAGACCTGGTGCTAATAG	0.338000													3	25					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77244459	77244459	+	Silent	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:77244459G>A	ENST00000388914.3	-	23	3413	c.3261C>T	c.(3259-3261)aaC>aaT	p.N1087N		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	1087										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CTGTACCTTGGTTCTTCAGCT	0.433000													34	117					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51020867	51020867	+	Silent	SNP	C	C	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:51020867C>T	ENST00000599957.1	-	3	2300	c.2103G>A	c.(2101-2103)aaG>aaA	p.K701K	LRRC4B_ENST00000389201.3_Silent_p.K701K			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	701						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TGGAGCCGCTCTTGAAGAGCA	0.716000													15	37					0	0	1	0	0
IGHE	3497	broad.mit.edu	37	14	106067995	106067995	+	RNA	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:106067995G>A	ENST00000390540.2	-	0	390																											CAGAGTCACGGAGGTGGCATT	0.612000													10	37					0	0	1	0	0
EFCAB2	84288	broad.mit.edu	37	1	245246775	245246775	+	Nonsense_Mutation	SNP	C	C	T	rs149676779		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:245246775C>T	ENST00000366522.2	+	6	844	c.703C>T	c.(703-705)Cga>Tga	p.R235*	EFCAB2_ENST00000447569.2_Nonsense_Mutation_p.R99*|EFCAB2_ENST00000487845.1_3'UTR|EFCAB2_ENST00000366523.1_Nonsense_Mutation_p.R99*			Q5VUJ9	EFCB2_HUMAN	EF-hand calcium binding domain 2	235	EF-hand 2.						calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|stomach(2)	13	all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982)		OV - Ovarian serous cystadenocarcinoma(106;0.015)			TGTCCTTCTTCGAGCTTTTGA	0.299000													38	57					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139371859	139371859	+	Missense_Mutation	SNP	G	G	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:139371859G>A	ENST00000313050.7	-	1	282	c.209C>T	c.(208-210)tCg>tTg	p.S70L		NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2033					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCTTTTGGACGAACTGCCCAG	0.552000													17	63					0	0	1	0	0
SLC25A18	83733	broad.mit.edu	37	22	18070826	18070826	+	Silent	SNP	C	C	T	rs140762646	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:18070826C>T	ENST00000327451.5	+	9	1249	c.711C>T	c.(709-711)gtC>gtT	p.V237V	SLC25A18_ENST00000399813.1_Silent_p.V237V|AC004019.13_ENST00000443935.1_RNA	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	237						integral to membrane|mitochondrial inner membrane	binding|symporter activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	TAGCTGCGGTCGCAGTGACGC	0.507000													13	68					0	0	1	0	0
RBM33	155435	broad.mit.edu	37	7	155531073	155531074	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:155531073_155531074delCA	ENST00000401878.3	+	11	1911_1912	c.1713_1714delCA	c.(1711-1716)cccafs	p.PT571fs		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	571	Pro-rich.						nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CGTTTCTGCCCACACACACACA	0.530													8	106	---	---	---	---					
MIR30B	407030	broad.mit.edu	37	8	135812799	135812799	+	RNA	DEL	A	A	-			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:135812799delA	ENST00000384850.1	-	0	51					NR_029666.1																						CCTCCCAGCCAATCCATGTAT	0.358													2	4	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933																											AACCTGTACTCGCGTCGGAACC	0.589													5	8	---	---	---	---					
ADNP2	22850	broad.mit.edu	37	18	77894260	77894261	+	Frame_Shift_Ins	INS	-	-	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:77894260_77894261insC	ENST00000262198.4	+	4	1419_1420	c.964_965insC	c.(964-966)cccfs	p.P322fs		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	322	Pro-rich.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A325fs*59(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CCTCACTCATTCCCCCCCTGCT	0.644													7	118	---	---	---	---					
SCARF2	91179	broad.mit.edu	37	22	20791941	20791943	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:20791941_20791943delAGC	ENST00000405555.3	-	1	169_171	c.99_101delGCT	c.(97-102)ctc>ct	p.LL33del	SCARF2_ENST00000266214.5_In_Frame_Del_p.LL33del	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	33					cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CAGCATCCAGagcagcagcagca	0.778													3	4	---	---	---	---					
